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Article

Hereditary hemorrhagic telangiectasia type 1 and 2 mutations in Finland.

Acta oto-laryngologica - 1 Nov 2008

Sankelo Marja, Halme Maija, Laitinen Tarja, Mattila Petri S

Abstract excerpt

CONCLUSION: The finding of several new unique mutations suggests that the genes causing hereditary hemorrhagic telangiectasia (HHT), i.e. endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1), have a relatively high mutation rate. As no single founder mutation was found, analysis of the whole coding sequences of ENG and ACVRL1 genes remains the first choice in genetic testing of new index patients with HHT....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18607909
DOI: 10.1080/00016480801908035

Genes

ACVRL1
ENG

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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