Article

A novel COL2A1 mutation (c.1888G>T(p.Gly630Cys)) in a Chinese family with Avascular necrosis of the femoral head

2024-01-30

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: Familial avascular necrosis of the femoral head (ANFH) was a complex and complicated orthopedic disorder that cause changes in the structure of type II collagen due to a pathogenic mutation in the COL2A1 gene. With the damage to cartilage and bone, the disease gradually deteriorated into familial ANFH. The reports of familial ANFH were extremely rare. Besides, m...

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Literature Corpus work: e924ef3d-4a6f-5d91-b3eb-7188f938d227
DOI: 10.21203/rs.3.rs-3875921/v1

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