Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.
about
Collagen VI related muscle disordersIdentification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathiesThe collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.The expanded collagen VI family: new chains and new questionsColVI myopathies: where do we stand, where do we go?Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.Flow cytometry analysis: a quantitative method for collagen VI deficiency screeningSuccessful heart transplantation from a donor with Ullrich congenital muscular dystrophy.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.Cell-matrix interactions in muscle disease.Autophagy in skeletal muscle homeostasis and in muscular dystrophiesEarly onset collagen VI myopathies: Genetic and clinical correlations.
P2860
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P2860
Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.
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
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-hant
name
Collagen VI status and clinica ...... ilies linked to the COL6 loci.
@en
Collagen VI status and clinica ...... ilies linked to the COL6 loci.
@nl
type
label
Collagen VI status and clinica ...... ilies linked to the COL6 loci.
@en
Collagen VI status and clinica ...... ilies linked to the COL6 loci.
@nl
prefLabel
Collagen VI status and clinica ...... ilies linked to the COL6 loci.
@en
Collagen VI status and clinica ...... ilies linked to the COL6 loci.
@nl
P2093
P356
P1433
P1476
Collagen VI status and clinica ...... milies linked to the COL6 loci
@en
P2093
Allamand V
Ferreiro A
Sabatelli P
Topaloglu H
P304
P356
10.1055/S-2004-815832
P577
2004-04-01T00:00:00Z