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Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report

BACKGROUND: Congenital coagulation factor VII (FVII) deficiency is a rare, autosomal‐recessive haemorrhagic disorder with an estimated incidence of 1:500,000. This disorder is caused by mutations in the F7 gene. CASE DESCRIPTION: Here, we report a pedigree of congenital FVII deficiency. The proband...

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Detalles Bibliográficos
Autores principales: Cai, Ruimin, Li, Yi, Xu, Wei, Gao, Xue, Feng, Qiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9833959/
https://www.ncbi.nlm.nih.gov/pubmed/36572978
http://dx.doi.org/10.1002/jcla.24768