[Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2015）

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摘要

The mutation c.2224G>A (p.Gly687Ser) of the COL2A1 gene is responsible for this family. There are heterozygous of phenotype for the mutation.

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