Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
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Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.Rare mutations and potentially damaging missense variants in genes encoding fibrillar collagens and proteins involved in their production are candidates for risk for preterm premature rupture of membranesARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita.A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literatureGermline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein familyA novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family.Impact of Arginine to Cysteine Mutations in Collagen II on Protein Secretion and Cell Survival.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.From Structure to Phenotype: Impact of Collagen Alterations on Human Health.
P2860
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P2860
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
@en
type
label
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
@en
prefLabel
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
@en
P2093
P2860
P50
P356
P1433
P1476
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies
@en
P2093
Aurélie Fabre
Bruno Dumont
David Genevieve
Mouna Barat-Houari
P2860
P356
10.1002/HUMU.22915
P577
2015-10-21T00:00:00Z