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Identification of deep intronic individual variants in patients with hemophilia A by next‐generation sequencing of the whole factor VIII gene

5 Aug 2017

Abstract excerpt

Unlabelled Box •Intronic variants of the factor VIII gene (F8) causing hemophilia A have been reported. •We established an analysis method for whole F8 and investigated the variants within its introns. •Rare variants located within introns of F8 in patients with hemophilia A are not uncommon. •The c.6429+14194T>C variant was characteristically detected in patients with inversion. Background No genetic defects are...

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PMID: 30046696
DOI: 10.1002/rth2.12031

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