LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
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Merosin-negative congenital muscular dystrophy: Report of five cases.Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy.Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related DiseasesCell-matrix interactions in muscle disease.Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy.Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophyGenotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients
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LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
description
article
@en
im Juni 2008 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в серпні 2008
@uk
name
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
@en
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
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type
label
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
@en
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
@nl
prefLabel
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
@en
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
@nl
P2093
P50
P1433
P1476
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
@en
P2093
I Soares-Silva
J C Ferreira
J Oliveira
K Heinimann
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P304
P356
10.1111/J.1399-0004.2008.01068.X
P577
2008-06-11T00:00:00Z