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[2% Haemophilia A patients without mutation in the FVIII gene].

Hamostaseologie - 1 Feb 2003

Uen C, Oldenburg J, Schröder J, Brackmann H-J, Schramm W, Schwaab R, Schneppenheim R, Graw J

Abstract excerpt

In Germany, approximately 6,000 patients are suffering from haemophilia A. Screening methods cover 97% of the mutations. For the other patients the coding sequences of the FVIII gene have to be sequenced in total. Out of 1,350 patients, no mutation was observed in 80 patients. In 5 patients, we observed an inversion in intron 1. Known mutations were detected in 16 patients, and in 19 cases novel mutations were...

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PMID: 12567191

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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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