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
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Bossler AD et al.
Human Mutation, 2006
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.
Lenato GM et al.
Human Mutation, 2006
ALK-1 mutations in liver transplanted patients with hereditary hemorrhagic telangiectasia.
Argyriou L et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2005
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Waite KA et al.
Nature Reviews. Genetics, 2003
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
Genetic abnormalities in hereditary hemorrhagic telangiectasia.
Marchuk DA
Current Opinion in Hematology, 1998
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