Identification of Two Novel Mutations in the PHEX Gene in Chinese Patients with Hypophosphatemic Rickets/Osteomalacia

OBJECTIVE: X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese families and 3 sporadic patients with hypophosphate...

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Detalhes bibliográficos
Main Authors: Yue, Hua, Yu, Jin-bo, He, Jin-wei, Zhang, Zeng, Fu, Wen-zhen, Zhang, Hao, Wang, Chun, Hu, Wei-wei, Gu, Jie-mei, Hu, Yun-qiu, Li, Miao, Liu, Yu-juan, Zhang, Zhen-Lin
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4024000/
https://ncbi.nlm.nih.gov/pubmed/24836714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0097830
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