Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families
about
Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasiaA mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16Diagnostic approach to the congenital muscular dystrophies.The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophyColVI myopathies: where do we stand, where do we go?Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.Early onset collagen VI myopathies: Genetic and clinical correlations.
P2860
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P2860
Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families
description
im Juli 2007 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 29 May 2007
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в липні 2007
@uk
name
Variable penetrance of COL6A1 ...... al muscular dystrophy families
@en
Variable penetrance of COL6A1 ...... al muscular dystrophy families
@nl
type
label
Variable penetrance of COL6A1 ...... al muscular dystrophy families
@en
Variable penetrance of COL6A1 ...... al muscular dystrophy families
@nl
prefLabel
Variable penetrance of COL6A1 ...... al muscular dystrophy families
@en
Variable penetrance of COL6A1 ...... al muscular dystrophy families
@nl
P2093
P1476
Variable penetrance of COL6A1 ...... al muscular dystrophy families
@en
P2093
Kristi J Jones
Naomi L Baker
Rachel A Peat
Shireen R Lamandé
P304
P356
10.1016/J.NMD.2007.03.017
P577
2007-05-29T00:00:00Z