PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy
about
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophyThe expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and reviewCongenital muscular dystrophies: a brief reviewLaminins and human disease.Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.Novel sequence variations in LAMA2 andSGCG genes modulating cis-acting regulatory elements and RNA secondary structure.Unique Collagen Fibers for Biomedical Applications.
P2860
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P2860
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy
description
1998 nî lūn-bûn
@nan
1998 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի մարտին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
PCR based mutation screening o ...... congenital muscular dystrophy
@ast
PCR based mutation screening o ...... congenital muscular dystrophy
@en
type
label
PCR based mutation screening o ...... congenital muscular dystrophy
@ast
PCR based mutation screening o ...... congenital muscular dystrophy
@en
prefLabel
PCR based mutation screening o ...... congenital muscular dystrophy
@ast
PCR based mutation screening o ...... congenital muscular dystrophy
@en
P2093
P2860
P356
P1476
PCR based mutation screening o ...... congenital muscular dystrophy
@en
P2093
Estournet B
Guicheney P
Haenggeli CA
P2860
P304
P356
10.1136/JMG.35.3.211
P407
P577
1998-03-01T00:00:00Z