Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.

Hereditary haemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is an autosomal dominant vascular dysplasia characterised by recurrent haemorrhage. Our initial linkage studies found an HHT gene to be localised to 9q3 in two large kindreds. In the present study, we examine an additional fi...

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Autori principali: McAllister, K A, Lennon, F, Bowles-Biesecker, B, McKinnon, W C, Helmbold, E A, Markel, D S, Jackson, C E, Guttmacher, A E, Pericak-Vance, M A, Marchuk, D A
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1994
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016692/
https://ncbi.nlm.nih.gov/pubmed/7891374
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