A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head

Avascular necrosis of the femoral head (ANFH) is a debilitating bone disease, characterized by collapse of the femoral head and subsequent loss of hip joint function. Heterozygous mutations in COL2A1 have been identified to cause familial ANFH. Here we report on a large Chinese family with ANFH and...

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Detalles Bibliográficos
Autores principales: Zhang, Zeng, Zhu, Kechao, Dai, Huiyong, Wang, Qi, Zhang, Changqing, Zhang, Zhenlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8178877/
https://www.ncbi.nlm.nih.gov/pubmed/34088323
http://dx.doi.org/10.1186/s12920-021-00995-y

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