The Magnificent VWF SNPs and Where to Find Them: A Journey in Exon 28 of the Hispanic Population

Autor:	Roger A. Fecher, Morayma Reyes Gil, Mohammad Barouqa, Saed Sadeghi, Jui Choudhuri, Jack Jacob
Rok vydání:	2019
Předmět:	Genetics African american congenital hereditary and neonatal diseases and abnormalities Exon hemic and lymphatic diseases cardiovascular system Single-nucleotide polymorphism Hispanic population General Medicine Biology circulatory and respiratory physiology
Zdroj:	American Journal of Clinical Pathology. 152:S16-S17
ISSN:	1943-7722 0002-9173
DOI:	10.1093/ajcp/aqz112.032
Popis:	von Willebrand disease (VWD) is a common coagulation disorder with a prevalence of 0.1% to 1.0% manifesting as a wide spectrum of bleeding symptoms. Type 1 is diagnosed by confirming a quantitative decrease in VWF level, while type 3 has undetectable levels of VWF. Type 2 VWD variants are characterized by functional and binding defects. Initial diagnosis and follow-up depend mainly on measuring VWF protein and VWF activity and calculating the activity to protein ratio. Ristocetin cofactor activity (VWF:RCo) is the most widely used and gold standard activity assay. In our institute, we use a cutoff of VWF:RCo/VWF:Ag
Databáze:	OpenAIRE
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