Hereditary Hemorrhagic Telangiectasia
Researchers at University of Pavia publish new data on hereditary hemorrhagic telangiectasia
Published in Genomics and Genetics Weekly, January 18th, 2008
"Molecular data on a large cohort of Italian HHT patients are presented, discussing the significance of missense and splice site mutations. Mutation analysis in ENG and ACVRL1 genes was performed using single strand conformation polymorphisms (SSCP), denaturing high performance liquid chromatography (DHPLC) and subsequent direct sequencing. Overall, 101 mutations were found, with ACVRL1...
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