PMID 23919827 2013 Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.
rs1057517944 in
ACVRL1 gene and
OSLER-RENDU-WEBER SYNDROME 2
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PMID 18673552 2008 Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.
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rs1057517944 in
ACVRL1 gene and
Telangiectasia, Hereditary Hemorrhagic, Type 1
PMID 15065824 2004 Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia.
PMID 16429404 2006 DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.
PMID 15517393 2005 Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
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PMID 15024723 2004 Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
PMID 23919827 2013 Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.
PMID 18673552 2008 Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.
PMID 17786384 2007 Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.
PMID 23722869 2014 Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.
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