Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
about
Diagnostic approach to the congenital muscular dystrophies.Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.Novel pathogenic variants and genes for myopathies identified by whole exome sequencingMosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilityComprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy.Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy.Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).The neuromuscular differential diagnosis of joint hypermobility.Prenatal diagnosis of congenital myopathies and muscular dystrophies.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.The nature and biology of basement membranes.Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.Authentication of collagen VI antibodiesImproving genetic diagnosis in Mendelian disease with transcriptome sequencing.ECM-Related Myopathies and Muscular Dystrophies: Pros and Cons of Protein Therapies.Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation.Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.Extracellular matrix: The driving force of mammalian diseases.Inflammatory myopathy in a patient with collagen VI mutations
P2860
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P2860
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Position of glycine substituti ...... nce in collagen VI myopathies.
@ast
Position of glycine substituti ...... nce in collagen VI myopathies.
@en
type
label
Position of glycine substituti ...... nce in collagen VI myopathies.
@ast
Position of glycine substituti ...... nce in collagen VI myopathies.
@en
prefLabel
Position of glycine substituti ...... nce in collagen VI myopathies.
@ast
Position of glycine substituti ...... nce in collagen VI myopathies.
@en
P2093
P2860
P356
P1433
P1476
Position of glycine substituti ...... nce in collagen VI myopathies.
@en
P2093
A Reghan Foley
Carsten G Bönnemann
Diane M Dunn
Jahannaz Dastgir
Kevin M Flanigan
Robert B Weiss
Russell J Butterfield
Sandra Donkervoort
Stephanie Asman
Thomas L Winder
P2860
P304
P356
10.1002/HUMU.22429
P577
2013-11-01T00:00:00Z