PMID- 10338101
OWN - NLM
STAT- MEDLINE
DCOM- 19990811
LR  - 20091119
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 5
DP  - 1999
TI  - Screen of 55 Slovenian haemophilia A patients: identification of 2 novel
      mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum. Mutation
      in brief no. 241. Online.
PG  - 413
AB  - Using polymerase chain reaction, single-stranded conformational polymorphism
      (SSCP), TaqI restriction analysis and direct sequencing, exons 1, 7, 8, 9, 12,
      13, 14, 18, 22, 23, 24, and 26 of the factor VIII gene were screened for point
      mutations in 55 Slovenian haemophilia A patients. In eighteen patients eleven
      different mutations were found; one (in six patients) in exon 26, one (in two
      patients) in exon 24, two in exon 23, one in intron 23, one in exon 18, one in
      exon 12, one in exon 8, two (1 + 1 in two patients) in exon 7 and one in exon 1. 
      Of the mutations detected one has recently been reported by us (Q602X), and two
      are novel; S-1R in exon 1 and IVS23+1G-->A in intron 23.
FAU - Strmecki, L
AU  - Strmecki L
AD  - Medical Centre for Molecular Biology, Institute of Biochemistry, Faculty of
      Medicine, University of Ljubljana, Slovenia.
FAU - Benedik-Dolnicar, M
AU  - Benedik-Dolnicar M
FAU - Vouk, K
AU  - Vouk K
FAU - Komel, R
AU  - Komel R
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 9001-27-8 (Factor VIII)
SB  - IM
MH  - Factor VIII/genetics
MH  - *Genetic Testing
MH  - Hemophilia A/*genetics
MH  - Humans
MH  - *Point Mutation
MH  - Polymorphism, Single-Stranded Conformational
MH  - Slovenia
EDAT- 1999/05/25 06:00
MHDA- 2000/06/22 10:00
CRDT- 1999/05/25 06:00
PHST- 1999/05/25 06:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/05/25 06:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:5<413::AID-HUMU14>3.0.CO;2-H [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:5<413::AID-HUMU15>3.0.CO;2-E [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(5):413. doi:
      10.1002/(SICI)1098-1004(1999)13:5<413::AID-HUMU15>3.0.CO;2-E.