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[Analysis of SLC25A13 gene mutations and prenatal diagnosis for 20 families affected with citrin deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2018

Shi Shanshan, Tang Xiaomei, Shi Zijian, Zha Qingbing, Cheng Ying, Zhang Zhanhui, Xiao Xiaomin, Yang Yandong, Song Yuanzong

Abstract excerpt

OBJECTIVE: To detect mutations of SLC25A13 gene in 20 families affected with citrin deficiency and provide prenatal diagnosis for them. METHODS: The 20 probands and their parents were subjected to high-frequency mutation screening combined with Sanger sequencing. After confirming the genotype of each pedigree, genetic counseling and prenatal diagnosis were performed for their subsequent pregnancies. RESULTS:...

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PMID: 30098237
DOI: 10.3760/cma.j.issn.1003-9406.2018.04.003

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