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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

ESSENTIALS: 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+1...

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Detalles Bibliográficos
Autores principales:	Inaba, Hiroshi, Shinozawa, Keiko, Amano, Kagehiro, Fukutake, Katsuyuki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Original Articles: Haemostasis
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058261/ https://www.ncbi.nlm.nih.gov/pubmed/30046696 http://dx.doi.org/10.1002/rth2.12031

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