Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen
about
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorderTandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagenAchondrogenesis type 1BA histological and ultrastructural study of femoral head cartilage in a new type II collagenopathyMild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI)Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies.Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.Molecular heterogeneity in chondrodysplasias.Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesisSubstitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.The Morphology of the Long Bone Physis in Hypochondroplasia and Comparison with Other Growth Disorders.
P2860
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P2860
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen
description
1988 nî lūn-bûn
@nan
1988 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen
@ast
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen
@en
type
label
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen
@ast
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen
@en
prefLabel
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen
@ast
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen
@en
P2860
P1476
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen
@en
P2093
Hollister DW
P2860
P304
P407
P577
1988-12-01T00:00:00Z