Integrated analysis of COL2A1 variant data and classification of type II collagenopathies

The COL2A1 gene encodes the alpha‐1 chain of type II procollagen. Type II collagen, comprised of three identical alpha‐1 chains, is the major component of cartilage. COL2A1 gene variants are the etiologies of genetic diseases, termed type II collagenopathies, with a wide spectrum of clinical present...

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Veröffentlicht in:	Clinical genetics 2020-03, Vol.97 (3), p.383-395
Hauptverfasser:	Zhang, Boyan, Zhang, Yue, Wu, Naichao, Li, Jianing, Liu, He, Wang, Jincheng
Format:	Artikel
Sprache:	eng
Schlagworte:	Cartilage COL2A1 Collagen (type II) Genetic screening genetic testing Genotypes LOVD Mutation Phenotypes Procollagen skeletal dysplasia type II collagen
Online-Zugang:	Volltext
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