PMID- 10408784
OWN - NLM
STAT- MEDLINE
DCOM- 19991103
LR  - 20091119
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 6
DP  - 1999
TI  - Mutational-screening in the factor VIII gene resulting in the identification of
      three novel mutations, one of which is a donor splice mutation. Mutations in
      brief no. 245. Online.
PG  - 504
AB  - Hemophilia A is an X-linked bleeding disease caused by mutations in the
      coagulation factor VIII gene. The identification and characterization of
      pathogenic mutations allows the recognition of new mechanisms of functional
      disturbances of factor VIII. To screen for mutations exons 1-26 of the factor
      VIII gene have been amplified genomically and analyzed by SSCP followed by direct
      sequencing of respective exons showing abnormal electrophoretic mobility on SSCP 
      analysis. In the present study we report the detection of four mutations in the
      factor VIII gene, of which three are novel. The mutational analysis of a patient 
      with severe hemophilia A has revealed that the ac transversion at position 3 of
      the donor-splice-site of intron 23 results in the skipping of exon 23. A novel
      nonsense mutation Q1778X in exon 16 of factor VIII gene has been identified in a 
      second hemophilia A case. Furthermore two missense mutations have been
      ascertained: a novel, S183R, causing a mild phenotype of hemophilia A and R282H, 
      previously described in association with severe hemophilia A.
FAU - Moller-Morlang, K
AU  - Moller-Morlang K
AD  - Institut fur Humangenetik der Westfalischen Wilhelms-Universitat Munster,
      Germany.
FAU - Tavassoli, K
AU  - Tavassoli K
FAU - Eigel, A
AU  - Eigel A
FAU - Pollmann, H
AU  - Pollmann H
FAU - Horst, J
AU  - Horst J
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 9001-27-8 (Factor VIII)
SB  - IM
MH  - Exons
MH  - Factor VIII/*genetics
MH  - *Genetic Testing
MH  - Hemophilia A/genetics
MH  - Humans
MH  - *Mutation
MH  - Mutation, Missense
MH  - Phenotype
MH  - Polymorphism, Single-Stranded Conformational
MH  - *RNA Splicing
EDAT- 1999/07/17 10:00
MHDA- 2000/06/22 10:00
CRDT- 1999/07/17 10:00
PHST- 1999/07/17 10:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/07/17 10:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:6<504::AID-HUMU14>3.0.CO;2-9 [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:6<504::AID-HUMU15>3.0.CO;2-6 [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(6):504. doi:
      10.1002/(SICI)1098-1004(1999)13:6<504::AID-HUMU15>3.0.CO;2-6.