Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Item
http://www.wikidata.org/entity/Q24681239
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

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Item
http://www.wikidata.org/entity/Q24681239
description
2000 nî lūn-bûn
@nan
2000 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
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
@wuu
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
P1433
P1476
P2093
P2860
P304
P31
P3181
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P3181
P356
P1433
P1476
Report of five novel and one r ...... thal type II collagen disorder
@en
P2093
P2860
P304
P31
P3181
P356
P407
P433
P478
P50
P577
P5875
P698
P932