Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
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Regulation of corneal stroma extracellular matrix assemblyCollagen XII: Protecting bone and muscle integrity by organizing collagen fibrilsGenome-Wide Association Study in Immunocompetent Patients with Delayed Hypersensitivity to Sulfonamide AntimicrobialsDiagnostic approach to the congenital muscular dystrophies.Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilityCollagen XII Contributes to Epicardial and Connective Tissues in the Zebrafish Heart during Ontogenesis and Regeneration.Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathyNovel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives.The neuromuscular differential diagnosis of joint hypermobility.The Ehlers-Danlos syndromes, rare types.Progressive muscle proteome changes in a clinically relevant pig model of Duchenne muscular dystrophy.Collagens VI and XII form complexes mediating osteoblast interactions during osteogenesis.Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.
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P2860
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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name
Mutations in the collagen XII ...... lular matrix-related myopathy.
@en
Mutations in the collagen XII ...... lular matrix-related myopathy.
@nl
type
label
Mutations in the collagen XII ...... lular matrix-related myopathy.
@en
Mutations in the collagen XII ...... lular matrix-related myopathy.
@nl
prefLabel
Mutations in the collagen XII ...... lular matrix-related myopathy.
@en
Mutations in the collagen XII ...... lular matrix-related myopathy.
@nl
P2093
P2860
P356
P1476
Mutations in the collagen XII ...... lular matrix-related myopathy.
@en
P2093
Anna Sarkozy
Ashoke Shah
Carsten G Bönnemann
Debbie Hicks
Elena Martoni
Golara Torabi Farsani
James Collins
Kate Bushby
Manuel Koch
Mark Roberts
P2860
P304
P356
10.1093/HMG/DDT637
P577
2013-12-13T00:00:00Z