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Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease
Von Willebrand disease (VWD) is an inherited bleeding disorder characterized by incomplete penetrance and variable expressivity. We evaluated a 24-member pedigree with VWD type 2 caused by a T>G mutation at position 3911 that predicts a methionine to arginine (M1304R) change in the platelet-bindi...
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| 出版年: | Blood |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Society of Hematology
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4497966/ https://ncbi.nlm.nih.gov/pubmed/26019279 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-11-613935 |
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