Article
[Identification of two novel variants of the PCCB gene in a pedigree affected with propionic acidemia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2021
Zhang Qigang, Fan Guanglai, Zhang Shu, Liu Yuefang, Zhang Wenjie, Pan Qiong
Abstract excerpt
OBJECTIVE: To detect pathogenic variants in a pedigree affected with propionic acidemia (PA). METHODS: The proband was subjected to high-throughput next-generation sequencing. Suspected variants were validated by Sanger sequencing of his family members. mRNA was extracted from peripheral blood lymphocytes from the proband's father in order to verify the impact of the splicing variant by RT-PCR combined with...
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