A Novel p. Gly630Ser Mutation of COL2A1 in a Chinese Family with Presentations of Legg–Calvé–Perthes Disease or Avascular Necrosis of the Femoral Head

OBJECTIVE: Mutations in the type II collagen gene are associated with certain human disorders, collectively termed type II collagenopathies. They include Legg–Calvé–Perthes disease (LCPD) and avascular necrosis of the femoral head (ANFH). These two diseases are skeletal dysplasias, inherited in an a...

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Detalhes bibliográficos
Main Authors: Li, Na, Yu, Jian, Cao, Xiang, Wu, Qiu-Yue, Li, Wei-Wei, Li, Tian-Fu, Zhang, Cui, Cui, Ying-Xia, Li, Xiao-Jun, Yin, Zhi-Min, Xia, Xin-Yi
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4065060/
https://ncbi.nlm.nih.gov/pubmed/24949742
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0100505
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