NovelPEX1 coding mutations and 5′ UTR regulatory polymorphisms
نویسندگان
چکیده
منابع مشابه
5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
BACKGROUND Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region of the activin A receptor type II-like 1 (ACVRL1) or Endoglin (ENG) gene. However, in approximately 15% of cases, sequencing analysis and deletion/duplication testing fail to i...
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Valentina Zanin, Ludovica Segat, Anna Monica Bianco, Lara Padovan, Nathalia de Alencar Cunha Tavares, Sergio Crovella I University of Trieste, Institute for Maternal and Child Health – IRCCS ‘‘Burlo Garofolo’’, Trieste, Italy. II Institute for Maternal and Child Health – IRCCS ‘‘Burlo Garofolo’’Trieste, Italy. III Federal University of Pernambuco, Laboratory of Immunopathology Keizo Asami (LIKA...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2005
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.9356