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Origin of mutation in sporadic cases of severe haemophilia A in Sweden

Authors :
Anna Letelier
Eric Manderstedt
Annika Mårtensson
Stina Ivarsson
Rolf Ljung
Christer Halldén
Source :
Clinical Genetics. 90:63-68
Publication Year :
2016
Publisher :
Wiley, 2016.

Abstract

Many newly diagnosed Swedish severe haemophilia A (HA) patients are sporadic cases. Some genotypically non-carrier mothers have gone on to have two descendants with the same mutation, presumably due to mosaicism.

Details

ISSN :
00099163
Volume :
90
Database :
OpenAIRE
Journal :
Clinical Genetics
Accession number :
edsair.doi...........5df1c480c4bf598c18637f0aa4f14eb4