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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065060/
https://www.ncbi.nlm.nih.gov/pubmed/24949742
http://dx.doi.org/10.1371/journal.pone.0100505

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