Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical gene...
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
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Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Language
English
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Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Contents
Hereditary hemorrhagic telangiectasia (HHT; Osler‐Weber‐Rendu disease) is an autosomal dominant disease characterized by arteriovenous malformations ranging from cutaneous and mucous membrane telangiectasias to more severe pulmonary, gastrointestinal, and cerebral arteriovenous malformations (AVMs). Acute complications from bleeding or pulmonary sh...
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Full title
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
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TN_cdi_proquest_miscellaneous_68569991
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68569991
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ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/humu.20342
