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Mutational spectrum and deep intronic variants in the factor VIII gene of haemophilia A patients. Identification by next generation sequencing.

Hamostaseologie - 8 Nov 2016

Bach J E, Oldenburg J, Müller C R, Rost S

Abstract excerpt

Haemophilia A (HA) is caused by a broad spectrum of different mutation types in the factor VIII gene (F8). In our patient cohort of more than 2600 HA patients as well as in other published studies, the most frequent cause are missense mutations in different F8 exons or the recurrent intron 22 inversion. Some exons and several specific nucleotide positions represent hot spots for point mutations in the examined...

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PMID: 27824209

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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