Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an autosomal dominant disorder which is clinically characterised by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations. Genetic linkage studies identified two...

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Detalles Bibliográficos
Autores principales: Sadick, Haneen, Hage, Johanna, Goessler, Ulrich, Stern-Straeter, Jens, Riedel, Frank, Hoermann, Karl, Bugert, Peter
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Research article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2701415/
https://www.ncbi.nlm.nih.gov/pubmed/19508727
http://dx.doi.org/10.1186/1471-2350-10-53

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