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Article

Impact of genotype and mutation type on health-related quality of life in patients with hereditary hemorrhagic telangiectasia.

Acta oto-laryngologica - 1 Aug 2009

Pfister Markus, Zalaman Ilse M, Blumenstock Gunnar, Mauz Paul-Stefan, Baumann Ingo

Abstract excerpt

CONCLUSIONS: Patients with hereditary hemorrhagic telangiectasia genotype ALK-1 (HHT2-ALK-1) with nonsense mutation demonstrated tendentially higher health-related quality of life (HR-QOL) scores than patients with HHT with genotype ENG (HHT1-ENG) with missense mutation. OBJECTIVE: HHT, also known as Osler-Weber-Rendu syndrome, comprises different expressions depending on genetic type and mutation type. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18855162
DOI: 10.1080/00016480802468138

Genes

ALK
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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