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Congenital factor V deficiency in Taiwan: identification of a novel variant p.Tyr1813(∗) and two variants specific to East Asians
Congenital coagulation factor V deficiency (FVD) is a rare, autosomal recessive bleeding disorder. We characterized the clinical presentations, laboratory features, and genetic alterations of Taiwanese patients with FVD. From 1983 to 2010, five women, one man, and one boy diagnosed with FVD were enr...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9799032/ https://www.ncbi.nlm.nih.gov/pubmed/35946468 http://dx.doi.org/10.1097/MBC.0000000000001162 |