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

Annika Mårtensson, Sten Ivarsson, Anna Letelier, Eric Manderstedt, Christer Halldén, Rolf Ljung

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskriftPeer review

Sammanfattning

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.
Originalspråkengelska
Sidor (från-till)63-68
TidskriftClinical Genetics
Volym90
Nummer1
DOI
StatusPublished - 2016

Ämnesklassifikation (UKÄ)

  • Hematologi

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