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[Identification of a novel splicing mutation of PKD1 gene in a pedigree affected with autosomal dominant polycystic kidney disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2016

Xu Peiwen, Zou Yang, Li Jie, Huang Sexin, Gao Ming, Kang Ranran, Gao Yuan

Abstract excerpt

OBJECTIVE: To identify potential mutations of PKD1 gene in a family affected with autosomal dominant polycystic kidney disease (ADPKD). METHODS: The coding regions of the PKD1 gene were subjected to PCR and Sanger sequencing. Reverse transcription-PCR (RT-PCR) was used to determine the relative mRNA expression in the patient. RESULTS: A splicing site mutation, c.8791+1_8791+5delGTGCG (IVS23+1_+5delGTGCG), was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27984604
DOI: 10.3760/cma.j.issn.1003-9406.2016.06.007

Genes

PKD1

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