Novel dinucleotide variant at 5' splice sites in the F8 gene causes exon 19 skipping

Published: 10 October 2025| Version 1 | DOI: 10.17632/tfdh737bh8.1
Contributor:
Qi Yang

Description

This repository provides the raw sequencing data for a Chinese family with hemophilia A described and analysed in our manuscript. These data include DNA Sanger sequencing results for exon 19 of the F8 gene in the proband and relevant family members (II2, III1, and III2), cDNA sequencing results for wild-type and mutant-typ bands, results for minigene recombinant vector construction (pcMINI and pcMINI-C), and sequencing results for RT-PCR products from HeLa and HEK-293T cell lines (bands a and b) in minigene splicing assays.

Files

Categories

Genetics, Sanger Sequencing

Licence