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A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5

Patients with hereditary haemorrhagic telangiectasia (HHT, or Osler-Weber-Rendu syndrome) have variable presentation patterns and a high risk of preventable complications. Diagnostic tests for mutations in endoglin (HHT type 1) and ALK-1 (HHT type 2) are available. Some HHT patients are now known to...

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Main Authors: Cole, S, Begbie, M, Wallace, G, Shovlin, C
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Group 2005
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736109/
https://ncbi.nlm.nih.gov/pubmed/15994879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.028712
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