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[Pathogenic Genes of A Hereditary Hemorrhagic Telangiectasia Pedigree].

Zhongguo shi yan xue ye xue za zhi - 1 Aug 2015

Cheng Xiao-Hui, Tu Chuan-Qing, Sun Shun-Chang, Li Jan-Yun, Zhang Xu-Yan, Wang Dian-Wen, Huang Can

Abstract excerpt

OBJECTIVE: To identify the mutation of ENG and ALK1 genes in a hereditary hemorrhagic telangiectasia pedigree. METHODS: 14 exons of ENG gene and 9 exons of ALK1 gene in 11 menbers of this pedigree 4 generation were amplified by reverse transcription-polymerase chain reaction (RT-PCR), the PCR products were screened by direct sequencing. RESULTS: A nonsense mutation c.447G > A was found in exon 4 of ENG gen of the...

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Topics

Codon, Nonsense
Exons
Humans
Mutation
Pedigree
Polymerase Chain Reaction
Telangiectasia, Hereditary Hemorrhagic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26314465
DOI: 10.7534/j.issn.1009-2137.2015.04.049

Genes

ENG

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