A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia

Pseudoachondroplasia (PSACH) is a rare and severe genetic disease; therefore, an accurate molecular diagnosis is essential for appropriate disease treatment and family planning. Currently, the diagnosis of PSACH is based mainly on family history, physical examination and radiographic evaluation. Gen...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Luo, Huaichao, Yu, Sisi, Lin, Ying, Guo, Qi, Ma, Rongchuan, Ye, Zimeng, Di, Yanan, Li, Ning, Miao, Yuanying, Zhou, Yu, Li, Yuanfeng, Yang, Jiyun, Yang, Zhenglin
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4899602/
https://ncbi.nlm.nih.gov/pubmed/27330822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.9
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