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...

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Detalles Bibliográficos
Autores principales: Lin, Hsuan-Yu, Lin, Ching-Yeh, Kuo, Su-Feng, Lin, Jen-Shiou, Lin, Po-Te, Huang, Ying-Chih, Hsieh, Han-Ni, Shen, Ming-Ching
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Original Articles
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

Internet

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

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