KEGG VARIANT: 7273v2

VARIANT: 7273v2

Entry

7273v2                      Variant

Name

TTN mutation

Type

Gain of function

Gene

TTN titin [KO:K12567]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 188840

Network

nt06539 Cytoskeleton in muscle cells

Disease

Hypertrophic cardiomyopathy

Reference

Authors

Kimura A

Title

Molecular etiology and pathogenesis of hereditary cardiomyopathy.

Journal

Circ J 72 Suppl A:A38-48 (2008)
DOI:10.1253/circj.cj-08-0050

Reference

Authors

Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A

Title

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.

Journal

Biochem Biophys Res Commun 262:411-7 (1999)
DOI:10.1006/bbrc.1999.1221

LinkDB

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