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Origin of mutation in sporadic cases of severe haemophilia A in Sweden
- 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.
- Subjects :
- 0301 basic medicine
Genetics
Pediatrics
medicine.medical_specialty
Haemophilia A
Haplotype
Newly diagnosed
030204 cardiovascular system & hematology
Biology
medicine.disease
03 medical and health sciences
030104 developmental biology
0302 clinical medicine
hemic and lymphatic diseases
Mutation (genetic algorithm)
medicine
Severe haemophilia A
Genetics (clinical)
Subjects
Details
- ISSN :
- 00099163
- Volume :
- 90
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi...........5df1c480c4bf598c18637f0aa4f14eb4