Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr).

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Article

Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr).

American journal of human genetics - 1 Apr 1991

Iannuzzi M C, Hidaka N, Boehnke M, Bruck M E, Hanna W T, Collins F S, Ginsburg D

Abstract excerpt

Reports of families with members affected with both von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia (HHT) suggest a possible relationship between these two disorders. vWD, the most common inherited bleeding disorder in humans, is due to either a quantitative or qualitative defect in von Willebrand factor (vWF). The gene for vWF has been cloned and mapped to chromosome 12 (12p12----12pter)....

Topics

Alleles
Base Sequence
Chromosomes, Human, Pair 12
DNA
Female
Genetic Linkage
Humans
Isoleucine
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymorphism, Restriction Fragment Length

Telangiectasia, Hereditary Hemorrhagic

Threonine

von Willebrand Diseases

von Willebrand Factor

Source

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Identifiers

PMID: 1673047
PMCID: PMC1682950

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1673047-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr).PMID 1673047Read ↗

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