The Molecular Genetics of von Willebrand Disease
Quantitative and/or qualitative deficiency of von Willebrand factor (vWF) is associated with the most common inherited bleeding disease von Willebrand disease (vWD). vWD is a complex disease with clinical and genetic heterogeneity. Incomplete penetrance and variable expression due to genetic and env...
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Format: | Article |
Language: | English |
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Galenos Publishing House
2012-12-01
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Series: | Turkish Journal of Hematology |
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Online Access: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-39205 |
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author | Ergül Berber |
author_facet | Ergül Berber |
author_sort | Ergül Berber |
collection | DOAJ |
description | Quantitative and/or qualitative deficiency of von Willebrand factor (vWF) is associated with the most common inherited bleeding disease von Willebrand disease (vWD). vWD is a complex disease with clinical and genetic heterogeneity. Incomplete penetrance and variable expression due to genetic and environmental factors contribute to its complexity. vWD also has a complex molecular pathogenesis. Some vWF gene mutations are associated with the affected vWF biosynthesis and multimerization, whereas others are associated with increased clearance and functional impairment. Moreover, in addition to a particular mutation, type O blood may result in the more severe phenotype. The present review aimed to provide a summary of the current literature on the molecular genetics of vWD. |
first_indexed | 2024-04-10T14:21:33Z |
format | Article |
id | doaj.art-30b1aeab55a8440b8f299b09e57344f5 |
institution | Directory Open Access Journal |
issn | 1308-5263 |
language | English |
last_indexed | 2024-04-10T14:21:33Z |
publishDate | 2012-12-01 |
publisher | Galenos Publishing House |
record_format | Article |
series | Turkish Journal of Hematology |
spelling | doaj.art-30b1aeab55a8440b8f299b09e57344f52023-02-15T16:09:16ZengGalenos Publishing HouseTurkish Journal of Hematology1308-52632012-12-0129431332410.5505/tjh.2012.39205TJH-39205The Molecular Genetics of von Willebrand DiseaseErgül Berber0İstanbul Arel University, Department Of Molecular Biology And Genetics, İstanbul, TurkeyQuantitative and/or qualitative deficiency of von Willebrand factor (vWF) is associated with the most common inherited bleeding disease von Willebrand disease (vWD). vWD is a complex disease with clinical and genetic heterogeneity. Incomplete penetrance and variable expression due to genetic and environmental factors contribute to its complexity. vWD also has a complex molecular pathogenesis. Some vWF gene mutations are associated with the affected vWF biosynthesis and multimerization, whereas others are associated with increased clearance and functional impairment. Moreover, in addition to a particular mutation, type O blood may result in the more severe phenotype. The present review aimed to provide a summary of the current literature on the molecular genetics of vWD.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-39205von willebrand factorvon willebrand diseasevon willebrand factor biosynthesis |
spellingShingle | Ergül Berber The Molecular Genetics of von Willebrand Disease Turkish Journal of Hematology von willebrand factor von willebrand disease von willebrand factor biosynthesis |
title | The Molecular Genetics of von Willebrand Disease |
title_full | The Molecular Genetics of von Willebrand Disease |
title_fullStr | The Molecular Genetics of von Willebrand Disease |
title_full_unstemmed | The Molecular Genetics of von Willebrand Disease |
title_short | The Molecular Genetics of von Willebrand Disease |
title_sort | molecular genetics of von willebrand disease |
topic | von willebrand factor von willebrand disease von willebrand factor biosynthesis |
url | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-39205 |
work_keys_str_mv | AT ergulberber themoleculargeneticsofvonwillebranddisease AT ergulberber moleculargeneticsofvonwillebranddisease |