학술논문
Congenital factor XI deficiency caused by a novel F11 missense variant: a case report.
Document Type
Case Study
Author
Source
Subject
*BRONCHIAL spasm
*MUSCLE cramps
*FUNCTIONAL genomics
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Language
ISSN
0353-9504
Abstract
The article presents a case study of a 27-year-old woman who first presented to neurology clinic having congenital factor XI deficiency caused by a novel F11 missense variant. Following a prolonged bleeding after a cesarean section at the age of 28, she was referred to a hematologist, who confirmed decreased FXI activity.