Article

A Novel Mutation of COL2A1 in a Large Chinese Family with Avascular Necrosis of the Femoral Head

2021-03-02

Abstract excerpt

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 familiar ANFH. Here we report on a large Chinese family with ANFH and a novel heterozygous mutation (c.3517 G > A, Gly1173Ser) in exon 50 of COL2A1 in the Gly-X-Y domain. Previously, only...

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Literature Corpus work: 425d080b-fad4-575c-8577-58d364d50b35
DOI: 10.21203/rs.3.rs-254992/v1

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