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Article

A novel mutation in ALK-1 causes hereditary hemorrhagic telangiectasia type 2.

Journal of dental research - 1 Aug 2006

Yan Z M, Fan Z P, Du J, Hua H, Xu Y Y, Wang S L

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant bleeding disorder and has two variants, HHT1 and HHT2, associated with mutations in the ENG and ALK-1 genes, respectively. We identified one Chinese HHT2 family to investigate the pathogenic gene and its possible mechanism of action by mutation screening and functional study. One substitution mutation (1717C>T) in exon 10 of the ALK-1 was found...

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Source

Identifiers

PMID: 16861286
DOI: 10.1177/154405910608500804

Genes

ALK
ENG

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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A novel mutation in ALK-1 causes hereditary hemorrhagic telangiectasia type 2.PMID 16861286Read ↗

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