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Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami
BACKGROUND: A variant of von Willebrand disease (VWD) type 2A, phenotype IIC (VWD2AIIC) is characterized by recessive inheritance, low von Willebrand factor antigen (VWF:Ag), lack of VWF high molecular weight multimers, absence of VWF proteolytic fragments, and mutations in the VWF propeptide. A fam...
Gorde:
| Argitaratua izan da: | J Thromb Haemost |
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| Egile Nagusiak: | , , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2016
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5035592/ https://ncbi.nlm.nih.gov/pubmed/27344059 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jth.13398 |
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