A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family

Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare autosomal dominant chondrodysplasia that is usually caused by substitution of glycine with another amino acid in the triple helical region of COL2A1. Herein, we describe a case of SEDC in a Chinese family with a novel de novo mutatio...

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Detaylı Bibliyografya
Yayımlandı:Hum Genome Var
Asıl Yazarlar: Xiong, Qiuhong, Liu, Yi, Xue, Yu, Liu, Shichao, Wang, Jing, Li, Ping, Wu, Changxin, Yang, Yanling, Xiao, Han
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2018
Konular:
Data Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5763142/
https://ncbi.nlm.nih.gov/pubmed/29354277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.59
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