PMID- 10215414
OWN - NLM
STAT- MEDLINE
DCOM- 19990420
LR  - 20131121
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 11
IP  - 4
DP  - 1998
TI  - Independent occurrence of the novel Arg2163 to His mutation in the factor VIII
      gene in three unrelated families with haemophila A with different phenotypes.
      Mutations in brief no. 126. Online.
PG  - 334
AB  - Using chemical mismatch analysis or denaturing gradient gel electrophoresis
      followed by nucleotide sequencing, we have identified the same G6545A mutation
      leading to an Arg2163 His subsitution in the factor VIII gene of three
      haemophiliacs from unrelated families. One of the affected individuals has severe
      haemophilia, while the other two are moderately severe. While we cannot exclude
      the possibility that these differences in phenotype arise from differences in
      VIII:C assay methods, other studies have also identified different clinical
      phenotypes in individuals with the same mutations, and suggested that they may
      arise from extragenic factors that affect or modify gene expression or protein
      function. The G6545A mutation occurs at a CG dinucleotide which is a known
      mutation hotspot, and which may explain the independent occurrence in unrelated
      families.
FAU - Theophilus, B D
AU  - Theophilus BD
AD  - Department of Haematology, Children's Hospital, Ladywood Middleway, Birmingham
      B16 8ET, U.K. Bimal.Theophilus@bhamchildrens.wmids.nhs.uk
FAU - Enayat, M S
AU  - Enayat MS
FAU - Higuchi, M
AU  - Higuchi M
FAU - Kazazian, H H
AU  - Kazazian HH
FAU - Antonarakis, S E
AU  - Antonarakis SE
FAU - Hill, F G
AU  - Hill FG
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 4QD397987E (Histidine)
RN  - 9001-27-8 (Factor VIII)
RN  - 94ZLA3W45F (Arginine)
SB  - IM
MH  - Amino Acid Substitution/*genetics
MH  - Arginine/*genetics
MH  - Factor VIII/*genetics
MH  - Hemophilia A/*genetics
MH  - Histidine/*genetics
MH  - Humans
MH  - Mutation/*genetics
MH  - Phenotype
EDAT- 1999/04/24 02:14
MHDA- 2000/06/22 10:00
CRDT- 1999/04/24 02:14
PHST- 1999/04/24 02:14 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/04/24 02:14 [entrez]
AID - 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU20>3.0.CO;2-# [pii]
AID - 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU20>3.0.CO;2-# [doi]
PST - ppublish
SO  - Hum Mutat. 1998;11(4):334. doi:
      10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU20>3.0.CO;2-#.