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Deep intronic F8 c.5999-27A>G variant causes exon 19 skipping and leads to moderate hemophilia A.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Oct 2020

Wang Xiong, Hu Qun, Tang Ning, Lu Yanjun, Deng Jun

Abstract excerpt

: Hemophilia A, an X-linked recessive bleeding disorder, is caused by mutations of F8 gene. In about 2% hemophilia A patients, no exonic mutation of F8 gene was found. We aimed to identify deep intronic mutations of F8 gene. We reanalyzed the next-generation sequencing data of six hemophilia A patients with negative F8 variant in either coding region or splice site. Deep intronic F8 c.5999-27A>G variant...

Topics

Exons
Female
Genetic Variation
Hemophilia A
Humans
Male

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 32833809
DOI: 10.1097/MBC.0000000000000950

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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