Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients
Haemophilia
.
2015 May;21(3):e237-e239.
doi: 10.1111/hae.12648.
Epub 2015 Feb 5.
Authors
D E Fransen van de Putte
1
,
W S Frankhuizen
1
,
L Vijfhuizen
1
,
L Groenewegen
1
,
R Y J Tamminga
2
,
K Bouman
3
,
A J van Essen
3
,
A C J Gijsbers
1
,
C A L Ruivenkamp
1
,
E M J Boon
1
Affiliations
1
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
2
University Medical Center Groningen, Beatrix Children's Hospital, University of Groningen, Groningen, The Netherlands.
3
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
PMID:
25655912
DOI:
10.1111/hae.12648
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Diagnostic Errors*
Exons
Factor VIII / genetics*
Genetic Carrier Screening*
Hemophilia A / diagnosis*
Hemophilia A / genetics*
Heterozygote*
Humans
Infant
Male
Mutation
Substances
Factor VIII