Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
about
Mechanisms and models of endoplasmic reticulum stress in chondrodysplasiaLethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathiesA novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head.Structural variations in articular cartilage matrix are associated with early-onset osteoarthritis in the spondyloepiphyseal dysplasia congenita (sedc) mouse.A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversityThe heterozygous disproportionate micromelia (dmm) mouse: morphological changes in fetal cartilage precede postnatal dwarfism and compared with lethal homozygotes can explain the mild phenotypeRecurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.Achondrogenesis.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.A Novel Loss-of-Function Variant in Transmembrane Protein 263 (TMEM263) of Autosomal Dwarfism in Chicken.A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to aCol2a1mutation
P2860
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P2860
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
description
2000 nî lūn-bûn
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2000 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի ապրիլին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
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name
Report of five novel and one r ...... thal type II collagen disorder
@ast
Report of five novel and one r ...... thal type II collagen disorder
@en
Report of five novel and one r ...... thal type II collagen disorder
@nl
type
label
Report of five novel and one r ...... thal type II collagen disorder
@ast
Report of five novel and one r ...... thal type II collagen disorder
@en
Report of five novel and one r ...... thal type II collagen disorder
@nl
prefLabel
Report of five novel and one r ...... thal type II collagen disorder
@ast
Report of five novel and one r ...... thal type II collagen disorder
@en
Report of five novel and one r ...... thal type II collagen disorder
@nl
P2093
P2860
P3181
P356
P1476
Report of five novel and one r ...... thal type II collagen disorder
@en
P2093
A De Paepe
D J Wilkin
D L Rimoin
L Nuytinck
R S Lachman
P2860
P304
P3181
P356
10.1136/JMG.37.4.263
P407
P577
2000-04-01T00:00:00Z