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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016692/
https://ncbi.nlm.nih.gov/pubmed/7891374
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