Two de novo factor VIII gene mutations in the family of an isolated severe haemophilia A patient
Haemophilia
.
2012 Jan;18(1):e3-4.
doi: 10.1111/j.1365-2516.2011.02609.x.
Epub 2011 Jul 11.
Authors
Z Kapsimali
,
A Pavlova
,
H Pergantou
,
E Adamtziki
,
J Oldenburg
,
H Platokouki
PMID:
21740484
DOI:
10.1111/j.1365-2516.2011.02609.x
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Chromosome Inversion / genetics*
DNA Mutational Analysis
Factor VIII / genetics*
Family
Female
Greece
Hemophilia A / genetics*
Humans
Introns / genetics
Male
Pedigree
Substances
Factor VIII