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Article

Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia.

Clinical genetics - 1 Jun 2003

Lastella P, Sabbà C, Lenato G M, Resta N, Lattanzi W, Gallitelli M, Cirulli A, Guanti G

Abstract excerpt

Autosomal-dominant hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous disease caused by mutations in at least two different loci. We screened for mutations in four Italian families where segregation studies showed clear evidence of linkage to the endoglin (ENG) locus. In addition, one sporadic case and three patients with pulmonary arteriovenous malformations, belonging to small nuclear...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Single-Stranded Conformational

Share to Receptors, Cell Surface

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Share to Telangiectasia, Hereditary Hemorrhagic

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Source

Identifiers

PMID: 12786761
DOI: 10.1034/j.1399-0004.2003.00081.x

Genes

ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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