DES CLIA Kit for Human(Homo sapiens) | EIAab.comDES CLIA Kit for Human(Homo sapiens)

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Index > Protein center > DES(Gene name) > Human

DES (Gene name),

Desmin (Protein name ), DESM_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

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Gene name:

DES;

Protein name:

Desmin;

Alternative:

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Homopolymer. Interacts with DST (By similarity). Interacts with MTM1.

Function:

Desmin are class-III intermediate filaments found in muscle cells. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures.

Subcellular Location:

Cytoplasm

Protein Attributes:

Sequence length:

470

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

470:

IETRDGEVVS | EATQQQHEVL |

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

MIM:

125660

Pfam:

PF00038

SMR:

P17661

UniGene:

Hs.594952

String:

P17661

KEGG:

hsa:1674

Uniprot:

P17661

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ELISA Kit for Human Desmin

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E0373h

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ELISA Kit for Human Desmin

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E0373b

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ELISA Kit for Human Desmin

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E0373m

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96T

ELISA Kit for Human Desmin

Cat.:

E0373p

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96T

ELISA Kit for Human Desmin

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E0373r

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96T

ELISA Kit for Human Desmin

Cat.:

E0373d

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96T

ELISA Kit for Human Desmin

Cat.:

E0373c

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96T

CLIA Kit for Human Desmin

Cat.:

U0373p

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96T

CLIA Kit for Human Desmin

Cat.:

U0373r

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96T

CLIA Kit for Human Desmin

Cat.:

U0373d

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96T

CLIA Kit for Human Desmin

Cat.:

U0373m

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96T

CLIA Kit for Human Desmin

Cat.:

U0373h

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96T

CLIA Kit for Human Desmin

Cat.:

U0373c

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96T

CLIA Kit for Human Desmin

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U0373b

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Polyclonal Antibody for Human Desmin

Cat.:

P0373Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human Desmin

Cat.:

P0373Rb-m

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40ug/0.2ml

Polyclonal Antibody for Human Desmin

Cat.:

P0373Rb-r

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40ug/0.2ml

Monoclonal Antibody for Human Desmin

Protein for Human Desmin

R&D Technical Data

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Precision

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Recovery

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Linearity

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References

1.

"Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development."
Li Z. , Lilienbaum A. , Butler-Browne G. , Paulin D.
Gene78:243-254(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
2.

"High level desmin expression depends on a muscle-specific enhancer."
Li Z. , Paulin D.
J. Biol. Chem.266:6562-6570(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
3.

"Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy."
Vicart P. , Dupret J.-M. , Hazan J. , Li Z. , Gyapay G. , Krishnamoorthy R. , Weissenbach J. , Fardeau M. , Paulin D.
Hum. Genet.98:422-429(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
tissue: Muscle.
4.

"Missense mutations in desmin associated with familial cardiac and skeletal myopathy."
Goldfarb L.G. , Park K.-Y. , Cervenakova L. , Gorokhova S. , Lee H.-S. , Vasconcelos O. , Nagle J.W. , Semino-Mora C. , Sivakumar K. , Dalakas M.C.
Nat. Genet.19:402-403(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANTS MFM1 PRO-337; PRO-360 AND ILE-393
5.

"Desmin mutation responsible for idiopathic dilated cardiomyopathy."
Li D. , Tapscoft T. , Gonzalez O. , Burch P.E. , Quinones M.A. , Zoghbi W.A. , Hill R. , Bachinski L.L. , Mann D.L. , Roberts R.
Circulation100:461-464(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANT CMD1I MET-451
6.

"Structural and functional analysis of a new desmin variant causing desmin-related myopathy."
Goudeau B. , Dagvadorj A. , Rodrigues-Lima F. , Nedellec P. , Casteras-Simon M. , Perret E. , Langlois S. , Goldfarb L. , Vicart P.
Hum. Mutat.18:388-396(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANT MFM1 PRO-389
7.

"Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy."
Kaminska A. , Strelkov S.V. , Goudeau B. , Olive M. , Dagvadorj A. , Fidzianska A. , Simon-Casteras M. , Shatunov A. , Dalakas M.C. , Ferrer I. , Kwiecinski H. , Vicart P. , Goldfarb L.G.
Hum. Genet.114:306-313(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS MFM1 ASP-342; PRO-357; 359-GLU--SER-361 DEL; ASN-366 DEL AND PRO-370;VARIANT VAL-213
8.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
tissue: Muscle.
9.

"A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation."
Sjoeberg G. , Saavedra-Matiz C.A. , Rosen D.R. , Wijsman E.M. , Borg K. , Horowitz S.H. , Sejersen T.
Hum. Mol. Genet.8:2191-2198(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 337-353;VARIANT MFM1 PRO-345;CHARACTERIZATION OF VARIANT MFM1 PRO-345
tissue: Skeletal muscle.
10.

"Functional significance of the specific sites phosphorylated in desmin at cleavage furrow: Aurora-B may phosphorylate and regulate type III intermediate filaments during cytokinesis coordinatedly with Rho-kinase."
Kawajiri A. , Yasui Y. , Goto H. , Tatsuka M. , Takahashi M. , Nagata K. , Inagaki M.
Mol. Biol. Cell14:1489-1500(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT SER-12; THR-17 AND SER-60
11.

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S. , Helbig A.O. , Slijper M. , Krijgsveld J. , Heck A.J. , Mohammed S.
Anal. Chem.81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
12.

"Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle."
Hnia K. , Tronchere H. , Tomczak K.K. , Amoasii L. , Schultz P. , Beggs A.H. , Payrastre B. , Mandel J.L. , Laporte J.
J. Clin. Invest.121:70-85(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH MTM1;CHARACTERIZATION OF VARIANTS ASP-342; PRO-357; PRO-360 AND PRO-370
13.

"Desmin myopathy."
Goldfarb L.G. , Vicart P. , Goebel H.H. , Dalakas M.C.
Brain127:723-734(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS MFM1
14.

"Desminopathies in muscle disease."
Paulin D. , Huet A. , Khanamyrian L. , Xue Z.
J. Pathol.204:418-427(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS MFM1
15.

"A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies."
Cetin N. , Balci-Hayta B. , Gundesli H. , Korkusuz P. , Purali N. , Talim B. , Tan E. , Selcen D. , Erdem-Ozdamar S. , Dincer P.
J. Med. Genet.50:437-443(2013) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN LGMD2R
16.

"A dysfunctional desmin mutation in a patient with severe generalized myopathy."
Munoz-Marmol A.M. , Strasser G. , Isamat M. , Coulombe P.A. , Yang Y. , Roca X. , Vela E. , Mate J.L. , Coll J. , Fernandez-Figueras M.T. , Navas-Palacios J.J. , Ariza A. , Fuchs E.
Proc. Natl. Acad. Sci. U.S.A.95:11312-11317(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MFM1 173-ARG--GLU-179 DEL
17.

"Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation."
Park K.-Y. , Dalakas M.C. , Semino-Mora C. , Lee H.-S. , Litvak S. , Takeda K. , Ferrans V.J. , Goldfarb L.G.
Clin. Genet.57:423-429(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MFM1 TRP-406
18.

"A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates."
Sugawara M. , Kato K. , Komatsu M. , Wada C. , Kawamura K. , Shindo P.S. , Yoshioka P.N. , Tanaka K. , Watanabe S. , Toyoshima I.
Neurology55:986-990(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MFM1 PRO-385
19.

"Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene."
Dalakas M.C. , Park K.-Y. , Semino-Mora C. , Lee H.S. , Sivakumar K. , Goldfarb L.G.
N. Engl. J. Med.342:770-780(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MFM1 PRO-337; ASP-342; PRO-360; ILE-393; TRP-406 AND MET-451;CHARACTERIZATION OF VARIANTS MFM1 PRO-337; ASP-342; PRO-360; ILE-393; TRP-406 AND MET-451
20.

"On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria."
Schroeder R. , Goudeau B. , Simon M.C. , Fischer D. , Eggermann T. , Clemen C.S. , Li Z. , Reimann J. , Xue Z. , Rudnik-Schoeneborn S. , Zerres K. , van der Ven P.F. , Fuerst D.O. , Kunz W.S. , Vicart P.
Hum. Mol. Genet.12:657-669(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MFM1 LYS-240 DEL;CHARACTERIZATION OF VARIANT MFM1 LYS-240 DEL
21.

Schroeder R. , Goudeau B. , Simon M.C. , Fischer D. , Eggermann T. , Clemen C.S. , Li Z. , Reimann J. , Xue Z. , Rudnik-Schoeneborn S. , Zerres K. , van der Ven P.F. , Fuerst D.O. , Kunz W.S. , Vicart P.
Hum. Mol. Genet.16:2989-2990(2003)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
22.

"Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin C-terminal alpha-helical segment."
Dagvadorj A. , Goudeau B. , Hilton-Jones D. , Blancato J.K. , Shatunov A. , Simon-Casteras M. , Squier W. , Nagle J.W. , Goldfarb L.G. , Vicart P.
Muscle Nerve27:669-675(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MFM1 PRO-357 AND PRO-370;CHARACTERIZATION OF VARIANTS MFM1 PRO-357 AND PRO-370
23.

"Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients."
Selcen D. , Ohno K. , Engel A.G.
Brain127:439-451(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MFM1 ILE-2; TYR-46; PHE-46 AND THR-449;CHARACTERIZATION OF VARIANTS MFM1 ILE-2; TYR-46; PHE-46 AND THR-449
24.

"Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro."
Baer H. , Fischer D. , Goudeau B. , Kley R.A. , Clemen C.S. , Vicart P. , Herrmann H. , Vorgerd M. , Schroeder R.
Hum. Mol. Genet.14:1251-1260(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MFM1 PRO-350;CHARACTERIZATION OF VARIANT MFM1 PRO-350
25.

"A novel desmin R355P mutation causes cardiac and skeletal myopathy."
Fidzianska A. , Kotowicz J. , Sadowska M. , Goudeau B. , Walczak E. , Vicart P. , Hausmanowa-Petrusewicz I.
Neuromuscul. Disord.15:525-531(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MFM1 PRO-355
26.

"Variable pathogenic potentials of mutations located in the desmin alpha-helical domain."
Goudeau B. , Rodrigues-Lima F. , Fischer D. , Casteras-Simon M. , Sambuughin N. , de Visser M. , Laforet P. , Ferrer X. , Chapon F. , Sjoberg G. , Kostareva A. , Sejersen T. , Dalakas M.C. , Goldfarb L.G. , Vicart P.
Hum. Mutat.27:906-913(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MFM1 ARG-338; TYR-399 AND LYS-401;VARIANT VAL-213;CHARACTERIZATION OF VARIANTS MFM1 ARG-338; PRO-360; ILE-393; TYR-399 AND LYS-401;CHARACTERIZATION OF VARIANT VAL-213
27.

"Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P."
Walter M.C. , Reilich P. , Huebner A. , Fischer D. , Schroeder R. , Vorgerd M. , Kress W. , Born C. , Schoser B.G. , Krause K.H. , Klutzny U. , Bulst S. , Frey J.R. , Lochmueller H.
Brain130:1485-1496(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT KAESER SYNDROME PRO-350
28.

"Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies."
Baer H. , Goudeau B. , Waelde S. , Casteras-Simon M. , Muecke N. , Shatunov A. , Goldberg Y.P. , Clarke C. , Holton J.L. , Eymard B. , Katus H.A. , Fardeau M. , Goldfarb L. , Vicart P. , Herrmann H.
Hum. Mutat.28:374-386(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MFM1 ILE-442; TRP-454 AND ILE-460;CHARACTERIZATION OF VARIANTS MFM1 ILE-442; MET-451; TRP-454 AND ILE-460
29.

"Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family."
Pica E.C. , Kathirvel P. , Pramono Z.A. , Lai P.S. , Yee W.C.
Neuromuscul. Disord.18:178-182(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MFM1 PHE-13
30.

"Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene."
van Tintelen J.P. , Van Gelder I.C. , Asimaki A. , Suurmeijer A.J. , Wiesfeld A.C. , Jongbloed J.D. , van den Wijngaard A. , Kuks J.B. , van Spaendonck-Zwarts K.Y. , Notermans N. , Boven L. , van den Heuvel F. , Veenstra-Knol H.E. , Saffitz J.E. , Hofstra R.M. , van den Berg M.P.
Heart Rhythm6:1574-1583(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MFM1 PHE-13;PHENOTYPIC VARIABILITY IN MFM1 PATIENTS
31.

"De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy."
Klauke B. , Kossmann S. , Gaertner A. , Brand K. , Stork I. , Brodehl A. , Dieding M. , Walhorn V. , Anselmetti D. , Gerdes D. , Bohms B. , Schulz U. , Zu Knyphausen E. , Vorgerd M. , Gummert J. , Milting H.
Hum. Mol. Genet.19:4595-4607(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MFM1 SER-116;CHARACTERIZATION OF VARIANT MFM1 SER-116
32.

"Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins."
Kostareva A. , Sjoberg G. , Gudkova A. , Smolina N. , Semernin E. , Shlyakhto E. , Sejersen T.
Acta Myol.30:42-45(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT VAL-213
33.

"Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy."
Vattemi G. , Neri M. , Piffer S. , Vicart P. , Gualandi F. , Marini M. , Guglielmi V. , Filosto M. , Tonin P. , Ferlini A. , Tomelleri G.
Acta Myol.30:121-126(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MFM1 PHE-7 AND TRP-454
34.

"Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation."
Hedberg C. , Melberg A. , Kuhl A. , Jenne D. , Oldfors A.
Eur. J. Hum. Genet.20:984-985(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MFM1 SER-419
35.

"Desmin mutations and arrhythmogenic right ventricular cardiomyopathy."
Lorenzon A. , Beffagna G. , Bauce B. , De Bortoli M. , Li Mura I.E. , Calore M. , Dazzo E. , Basso C. , Nava A. , Thiene G. , Rampazzo A.
Am. J. Cardiol.111:400-405(2013) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS VAL-213 AND GLU-241

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