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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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Hoofdauteurs: | , , , , , , |
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Formaat: | Artigo |
Taal: | Inglês |
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BioMed Central
2009
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Onderwerpen: | |
Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2701415/ https://ncbi.nlm.nih.gov/pubmed/19508727 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-10-53 |
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