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Article

[Mutations of ACVRL1 gene in a pedigree with hereditary hemorrhagic telangiectasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2008

Luo Jie-wei, Chen Hui, Yang Liu-qing, Zhu Ai-lan, Wu Yan-an, Li Jian-wei

Abstract excerpt

OBJECTIVE: To identify the activin A receptor type II-like 1 gene (ACVRL1) mutations in a Chinese family with hereditary hemorrhagic telangiectasia (HHT2). METHODS: The exons 3, 7 and 8 of ACVRL1 gene of the proband and her five family members were amplified by polymerase chain reaction (PCR), and the PCR products were sequenced. RESULTS: The proband had obvious telangiectasis of gastric mucosa, and small...

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Identifiers

PMID: 18543223

Genes

ACVRL1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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