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Article

[Analysis of UPB1 gene mutation in a family affected with beta-ureidopropinoase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2015

Shu Jianbo, Lin Shuxiang, Meng Yingtao, Zhang Chunhua, Xu Haiquan, Zhang Yuqin, Huang Jingfu

Abstract excerpt

OBJECTIVE To detect potential mutation in a Chinese family affected with beta-ureidopropinoase deficiency. METHODS Genomic DNA was extracted from peripheral blood samples. All exons and flanking intron regions of the UPB1 gene were amplified by PCR and detected by direct sequencing. RESULTS A homozygous mutation c.977G>A was identified in exon 9 of the UPB1 gene in the proband. Both parents of the proband had...

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Identifiers

PMID: 26418983
DOI: 10.3760/cma.j.issn.1003-9406.2015.05.008

Genes

UPB1

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[Analysis of UPB1 gene mutation in a family affected with beta-ureidopropinoase deficiency].PMID 26418983Read ↗

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