Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation

Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). Accurate clinical diagnosis of PSACH is sometimes difficult. Here, we identified a novel COMP mutation (c.1675G>A, p.Glu559Lys) in a Chi...

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Detalles Bibliográficos
Autores principales: Gu, Chongjuan, Yang, Zhao, Tan, Hao, Zhang, Yingying, Lu, Yilu, Ma, Yongxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591969/
https://www.ncbi.nlm.nih.gov/pubmed/29104872
http://dx.doi.org/10.1155/2017/5809787

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