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Article

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

Human mutation - 1 Feb 2006

Lenato Gennaro M, Lastella Patrizia, Di Giacomo Marilena C, Resta Nicoletta, Suppressa Patrizia, Pasculli Giovanna, Sabbà Carlo, Guanti Ginevra

Abstract excerpt

Hereditary haemorrhagic telangiectasia (HHT or Rendu-Osler-Weber syndrome) is an autosomal dominant disorder characterized by localized angiodysplasia due to mutations in endoglin, ALK-1 gene, and a still unidentified locus. The lack of highly recurrent mutations, locus heterogeneity, and the presence of mutations in almost all coding exons of the two genes makes the screening for mutations time-consuming and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16429404
DOI: 10.1002/humu.9400

Genes

ENG
ALK

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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