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Article

A novel splicing mutation in F8 causes various aberrant transcripts in a hemophilia A patient and identifies a new transcript from healthy individuals.

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

Yi Sheng, Zuo Yangjin, Yu Qiuxia, Yang Qi, Li Mengting, Lan Yueyun, Huang Limei, Zhang Qinle, Qin Zailong, Luo Jingsi

Abstract excerpt

: Hemophilia A is an X-linked hemorrhagic disorder caused by deficiency or dysfunction of the coagulation factor VIII (FVIII), and a great variety of mutations in the factor VIII gene (F8) are identified. We aimed to identify the genetic defects of the F8 gene in a Chinese patient with moderate hemophilia A. We have identified a novel intronic variant in the hemophilia A patient by DNA sequence analysis, cDNA...

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PMID: 32852327
DOI: 10.1097/MBC.0000000000000952

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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