Associated Papers
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.
Olivieri C et al.
Journal of Human Genetics, 2007
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
Lesca G et al.
Human Mutation, 2006
Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician.
Giordano P et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.
Lenato GM et al.
Human Mutation, 2006
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
Letteboer TG et al.
Human Genetics, 2005
Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia.
Olivieri C et al.
Journal of Medical Genetics, 2002
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