PMID- 10468877
OWN - NLM
STAT- MEDLINE
DCOM- 19991026
LR  - 20190705
IS  - 0007-1048 (Print)
IS  - 0007-1048 (Linking)
VI  - 106
IP  - 3
DP  - 1999 Sep
TI  - A family with hereditary factor X deficiency with a point mutation Gla32 to Gln
      in the Gla domain (factor X Tokyo).
PG  - 809-11
AB  - We report a new family with hereditary factor X deficiency. The propositus had a 
      markedly prolonged prothrombin time, a mild prolongation of activated partial
      thromboplastin time and a clotting time activated by Russell's viper venom.
      Factor X activity in plasma was 3 u/dl (normal range 56-138 u/dl). Factor X
      antigen level was 61 u/dl. Molecular analysis revealed a homozygous mutation, Glu
      (GAG) to Gln (CAG) at residue 32 which normally undergoes gamma-carboxylation
      within the gamma-carboxyglutamic acid rich domain. The genotypes of family
      members completely correlated with their factor X activities. It is suggested
      that the Glu32 to Gln mutation is the molecular basis for the abnormal factor X
      in this family.
FAU - Zama, T
AU  - Zama T
AD  - Department of Medicine, School of Medicine, Keio University, Shinjuku-ku, Tokyo.
FAU - Murata, M
AU  - Murata M
FAU - Watanabe, R
AU  - Watanabe R
FAU - Yokoyama, K
AU  - Yokoyama K
FAU - Moriki, T
AU  - Moriki T
FAU - Ambo, H
AU  - Ambo H
FAU - Murakami, H
AU  - Murakami H
FAU - Kikuchi, M
AU  - Kikuchi M
FAU - Ikeda, Y
AU  - Ikeda Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Br J Haematol
JT  - British journal of haematology
JID - 0372544
RN  - 53445-96-8 (1-Carboxyglutamic Acid)
RN  - 9001-29-0 (Factor X)
SB  - IM
MH  - 1-Carboxyglutamic Acid/genetics
MH  - Adult
MH  - Factor X/genetics
MH  - Factor X Deficiency/*genetics
MH  - Female
MH  - Heterozygote
MH  - Homozygote
MH  - Humans
MH  - Male
MH  - Pedigree
MH  - Point Mutation/*genetics
EDAT- 1999/09/01 00:00
MHDA- 1999/09/01 00:01
CRDT- 1999/09/01 00:00
PHST- 1999/09/01 00:00 [pubmed]
PHST- 1999/09/01 00:01 [medline]
PHST- 1999/09/01 00:00 [entrez]
AID - bjh1614 [pii]
AID - 10.1046/j.1365-2141.1999.01614.x [doi]
PST - ppublish
SO  - Br J Haematol. 1999 Sep;106(3):809-11. doi: 10.1046/j.1365-2141.1999.01614.x.