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Article

Whole Exome Sequencing Identifies a c.C2566T Mutation in the Androgen Receptor in a Chinese Family.

Clinical laboratory - 1 Sept 2017

Wang Zengge, Zhou Yulin, Yang Ruijuan, Xia Zhongmin, Zeng Huan, Du Liya, Ren Jun, Guo Qiwei

Abstract excerpt

BACKGROUND: Whole exome sequencing (WES) is one of the most valuable tools for the detection of Mendelian diseases in clinical laboratory. We performed WES for a family of 46,XY disorders of gender development and compared the applicability of public databases for the subsequent phenotype studies of WES-identified mutations. METHODS: DNA samples from the two patients were analyzed by WES. The mutated protein was...

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Identifiers

PMID: 28879700
DOI: 10.7754/Clin.Lab.2017.170316

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