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Article

[Clinical features and genetic screening of hereditary hemorrhagic telangiectasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2013

Liu Chang, Lv Yin-xia, Yang Xiao-dong, Huang Yan-hua, Luo Yi, Yi Qun

Abstract excerpt

OBJECTIVE: To analyze clinical features of 4 families with hereditary hemorrhagic telangiectasia (HHT) and potential mutations of ENG, ACVRL1 and SMAD4 genes. METHODS: Four unrelated HHT patients and their affected family members were analyzed. All exons and flanking regions of ENG, ACVRL1 and SMAD4 genes were analyzed with PCR and direct sequencing and multiplex ligation-dependent probe amplification (MLPA)...

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Topics

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Share to Activin Receptors, Type II
Share to Amino Acid Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Antigens, CD

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Share to Telangiectasia, Hereditary Hemorrhagic

Source

Identifiers

PMID: 23568730
DOI: 10.3760/cma.j.issn.1003-9406.2013.04.012

Genes

ENG
ACVRL1
SMAD4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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