KEGG VARIANT: 3679v1

VARIANT: 3679v1

Entry

3679v1                      Variant

Name

ITGA7 mutation

Type

Loss of function

Gene

ITGA7 integrin subunit alpha 7 [KO:K06583]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 600536

Network

nt06539 Cytoskeleton in muscle cells

Disease

H00590

Congenital muscular dystrophies (CMD/MDC)

Reference

PMID:9590299

Authors

Hayashi YK, Chou FL, Engvall E, Ogawa M, Matsuda C, Hirabayashi S, Yokochi K, Ziober BL, Kramer RH, Kaufman SJ, Ozawa E, Goto Y, Nonaka I, Tsukahara T, Wang JZ, Hoffman EP, Arahata K

Title

Mutations in the integrin alpha7 gene cause congenital myopathy.

Journal

Nat Genet 19:94-7 (1998)
DOI:10.1038/ng0598-94

LinkDB

DBGET integrated database retrieval system