A novel Cys328-terminator mutant implicated in severe coagulation factor XIII deficiency: a case report

A novel Cys328-terminator mutant implicated in severe coagulation factor XIII deficiency: a case report

Abstract Background Factor XIII (FXIII) deficiency is an extremely rare bleeding disorder that is commonly due to mutations in the FXIIIA subunit gene (F13A1), and it has been reported to have a prevalence of one per 2 million. We describe a new genetic variant in the F13A1 gene that caused a patien...

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Bibliographic Details
Main Authors: Ruimin Cai, Yi Li, Wenyang Wang, Qiang Feng
Format: Article
Language:English
Published: BMC 2020-09-01
Series:BMC Medical Genetics
Subjects:
Bleeding disorder
Factor XIII deficiency
Point mutation
A-subunit
Online Access:http://link.springer.com/article/10.1186/s12881-020-01111-0

Internet

http://link.springer.com/article/10.1186/s12881-020-01111-0

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