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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
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 |