Phenotypic variability associated with Arg26Gln mutation in caveolin3.
about
Caveolinopathies: from the biology of caveolin-3 to human diseasesMembrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlinRippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromesGenetics of neuromuscular disorders.Non-canonical roles for caveolin in regulation of membrane repair and mitochondria: implications for stress adaptation with age.Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.Rippling is not always electrically silent in rippling muscle disease
P2860
Q24599074-9CB5A3E8-15F1-4673-8373-A4FED163A5D3Q28241932-8189C21A-6CBC-48F8-A61A-001ACA109635Q35985502-6ED6329A-2633-4015-8642-C5E015196A40Q37999075-7ECDE3FD-7B01-4586-B2A6-74BD735FBD9BQ46747841-00ADFB1B-1EF3-4FA5-8C08-543CCE23B99EQ46769731-636BCD91-F725-4366-8A66-CD968E4CDE5BQ55498170-F0669FF1-F21E-49D4-BC8E-DC53B5E3B95CQ57770190-6D91FD4E-17D8-4CC8-89D0-37F3B47EDD22
P2860
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh
2004年學術文章
@zh-hant
name
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
@en
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
@nl
type
label
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
@en
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
@nl
prefLabel
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
@en
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
@nl
P2093
P2860
P356
P1433
P1476
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
@en
P2093
Carlos Barraza
Dominic B Fee
Karla P Figueroa
Stefan-M Pulst
P2860
P304
P356
10.1002/MUS.20092
P577
2004-09-01T00:00:00Z