PMID- 10606881
OWN - NLM
STAT- MEDLINE
DCOM- 20000210
LR  - 20190705
IS  - 0007-1048 (Print)
IS  - 0007-1048 (Linking)
VI  - 107
IP  - 4
DP  - 1999 Dec
TI  - Heterozygous factor XI deficiency associated with three novel mutations.
PG  - 763-5
AB  - To determine the utility of single-stranded conformation polymorphism (SSCP)
      analysis for screening mutations in the factor XI (fXI) gene, we investigated
      three patients with heterozygous factor XI deficiency. DNA sequence analysis
      confirmed three novel mutations; a CGC --> TGC (Arg308Cys) mutation in exon 9, a 
      GCT-->GTT (Ala412Val) mutation in exon 11 and an AGC --> AGA (Ser576Arg) mutation
      in exon 15. We postulated on the structural implications of these missense
      mutations. Our results demonstrated that genotypic analysis is a useful tool for 
      conclusive differentiation between heterozygous factor XI deficiency and normal
      subjects.
FAU - Mitchell, M
AU  - Mitchell M
AD  - The Haemophilia Centre, St Thomas' Hospital, London.
FAU - Cutler, J
AU  - Cutler J
FAU - Thompson, S
AU  - Thompson S
FAU - Moore, G
AU  - Moore G
FAU - Jenkins Ap Rees, E
AU  - Jenkins Ap Rees E
FAU - Smith, M
AU  - Smith M
FAU - Savidge, G
AU  - Savidge G
FAU - Alhaq, A
AU  - Alhaq A
LA  - eng
PT  - Journal Article
PL  - England
TA  - Br J Haematol
JT  - British journal of haematology
JID - 0372544
SB  - IM
MH  - Factor XI Deficiency/*genetics
MH  - Heterozygote
MH  - Humans
MH  - Mutation/*genetics
MH  - Polymerase Chain Reaction/methods
MH  - Polymorphism, Single-Stranded Conformational
EDAT- 1999/12/22 00:00
MHDA- 1999/12/22 00:01
CRDT- 1999/12/22 00:00
PHST- 1999/12/22 00:00 [pubmed]
PHST- 1999/12/22 00:01 [medline]
PHST- 1999/12/22 00:00 [entrez]
AID - bjh1769 [pii]
AID - 10.1046/j.1365-2141.1999.01769.x [doi]
PST - ppublish
SO  - Br J Haematol. 1999 Dec;107(4):763-5. doi: 10.1046/j.1365-2141.1999.01769.x.