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Identification of two novel mutations in three children with congenital factor VII deficiency

Congenital factor VII deficiency (FVIID) is a rare F7 gene mutation causing bleeding disorder inherited in an autosomal recessive manner. In this study, we aimed to identify genetic defects and analyze their relationships with phenotype in three Chinese FVIID patients. The diagnosis of FVIID was mad...

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Detalles Bibliográficos
Autores principales: Liang, Kairong, Nikuze, Lauriane, Zhang, Fuyong, Lu, Zhengjing, Wei, Manlv, Wei, Hongying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8279893/
https://www.ncbi.nlm.nih.gov/pubmed/33587484
http://dx.doi.org/10.1097/MBC.0000000000001022