Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turk...
Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients
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Publisher
Turkey: Trakya Üniversitesi
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Language
English
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Publisher
Turkey: Trakya Üniversitesi
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Contents
Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by telangiectasia, epistaxis, and vascular malformations. Pathogenic mutations were found in
, and
genes. In this study, we present our database of patients with hereditary hemorrhagic telangiectasia regarding the phenotype-genotype relations and discuss two...
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Full title
Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients
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TN_cdi_doaj_primary_oai_doaj_org_article_be82f91c3dbd4b87b16144945cfc6c6a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_be82f91c3dbd4b87b16144945cfc6c6a
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ISSN
2146-3123
E-ISSN
2146-3131
DOI
10.4274/balkanmedj.galenos.2019.2019.7.2
