[Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency].

Wu Ml,Liu L, Mao Xj, Peng Mz, Liu Hs, Sheng Hy, Cai Yn, Mei Hf,Fan C,Huang Yl,Li Xz,Cheng J

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics（2015）

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摘要

The novel duplication mutation c.1111_1158dup48bp in the PDHA1 gene is not due to gene polymorphisms but a possible novel pathogenic mutation for PHD.

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关键词

pdha1 gene,pyruvate dehydrogenase,novel pathogenic mutation,complex deficiency

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