Premature arthritis is a distinct type II collagen phenotype.
about
Identification of a novel COL2A1 mutation (c.1744G>A) in a Japanese family: a case report.A gain of function mutation in TNFRSF11B encoding osteoprotegerin causes osteoarthritis with chondrocalcinosis.Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.Role of proopiomelanocortin-derived peptides and their receptors in the osteoarticular system: from basic to translational research.A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversityGene expression profile analysis of human intervertebral disc degeneration.Clinical phenotypes associated with type II collagen mutations.The collagenopathies: review of clinical phenotypes and molecular correlations.Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.
P2860
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P2860
Premature arthritis is a distinct type II collagen phenotype.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on May 2010
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Premature arthritis is a distinct type II collagen phenotype.
@en
Premature arthritis is a distinct type II collagen phenotype.
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type
label
Premature arthritis is a distinct type II collagen phenotype.
@en
Premature arthritis is a distinct type II collagen phenotype.
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prefLabel
Premature arthritis is a distinct type II collagen phenotype.
@en
Premature arthritis is a distinct type II collagen phenotype.
@nl
P2093
P2860
P356
P1476
Premature arthritis is a distinct type II collagen phenotype
@en
P2093
Desiree du Sart
Peter Kannu
Ravi Savarirayan
Shannon Cowie
Shaun McGrath
Susan Randle
P2860
P304
P356
10.1002/ART.27354
P577
2010-05-01T00:00:00Z