A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
about
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutationThe seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern ItalyCharacterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophyGenetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.Sarcoglycans in muscular dystrophy.A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins.Further evidence for a fourth gene causing X-linked pure spastic paraplegia.
P2860
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P2860
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
description
1995 nî lūn-bûn
@nan
1995 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
A common missense mutation in ...... limb-girdle muscular dystrophy
@ast
A common missense mutation in ...... limb-girdle muscular dystrophy
@en
A common missense mutation in ...... limb-girdle muscular dystrophy
@nl
type
label
A common missense mutation in ...... limb-girdle muscular dystrophy
@ast
A common missense mutation in ...... limb-girdle muscular dystrophy
@en
A common missense mutation in ...... limb-girdle muscular dystrophy
@nl
prefLabel
A common missense mutation in ...... limb-girdle muscular dystrophy
@ast
A common missense mutation in ...... limb-girdle muscular dystrophy
@en
A common missense mutation in ...... limb-girdle muscular dystrophy
@nl
P2093
P356
P1476
A common missense mutation in ...... limb-girdle muscular dystrophy
@en
P2093
E S Moreira
J Chamberlain
K P Campbell
S L Roberds
P304
P356
10.1093/HMG/4.7.1163
P407
P50
P577
1995-07-01T00:00:00Z