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Article

[Gene analysis in a family of hereditary hemorrhagic telangiectasia].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Feb 2015

Yuan Dong, Yin Xiaohua, Dai Yuhong, Li Bing, Liang Keji, Wei Guangyi

Abstract excerpt

OBJECTIVE: To investigate the clinical feature of a family with hereditary hemorrhagic telangiectasia (HHT), and to study the mutation of its related genes. METHODS: Medical histories of the family were analyzed to detect HHT patients according to the diagnostic criteria. ENG and ALK-1 genes of the proband and her two daughters were analyzed. DNA from the three patients' peripheral blood was extracted. The exons...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25778885
DOI: 10.3760/cma.j.issn.0253-2727.2015.02.006
PMCID: PMC7342162

Genes

ALK
HTT
ENG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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