PMID- 10090935
OWN - NLM
STAT- MEDLINE
DCOM- 19990419
LR  - 20101118
IS  - 0006-4971 (Print)
IS  - 0006-4971 (Linking)
VI  - 93
IP  - 7
DP  - 1999 Apr 1
TI  - ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII
      deficiency families.
PG  - 2261-6
AB  - Combined factors V and VIII deficiency is an autosomal recessive bleeding
      disorder associated with plasma levels of coagulation factors V and VIII
      approximately 5% to 30% of normal. The disease gene was recently identified as
      the endoplasmic reticulum-Golgi intermediate compartment protein ERGIC-53 by
      positional cloning, with the detection of two founder mutations in 10 Jewish
      families. To identify mutations in additional families, the structure of the
      ERGIC-53 gene was determined by genomic polymerase chain reaction (PCR) and
      sequence analysis of bacterial artificial chromosome clones containing the
      ERGIC-53 gene. Nineteen additional families were analyzed by direct sequence
      analysis of the entire coding region and the intron/exon junctions. Seven novel
      mutations were identified in 10 families, with one additional family found to
      harbor one of the two previously described mutations. All of the identified
      mutations would be predicted to result in complete absence of functional ERGIC-53
      protein. In 8 of 19 families, no mutation was identified. Genotyping data
      indicate that at least two of these families are not linked to the ERGIC-53
      locus. Taken together, these results suggest that a significant subset of
      combined factors V and VIII deficiency is due to mutation in one or more
      additional genes.
FAU - Nichols, W C
AU  - Nichols WC
AD  - Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, OH,
      USA.
FAU - Terry, V H
AU  - Terry VH
FAU - Wheatley, M A
AU  - Wheatley MA
FAU - Yang, A
AU  - Yang A
FAU - Zivelin, A
AU  - Zivelin A
FAU - Ciavarella, N
AU  - Ciavarella N
FAU - Stefanile, C
AU  - Stefanile C
FAU - Matsushita, T
AU  - Matsushita T
FAU - Saito, H
AU  - Saito H
FAU - de Bosch, N B
AU  - de Bosch NB
FAU - Ruiz-Saez, A
AU  - Ruiz-Saez A
FAU - Torres, A
AU  - Torres A
FAU - Thompson, A R
AU  - Thompson AR
FAU - Feinstein, D I
AU  - Feinstein DI
FAU - White, G C
AU  - White GC
FAU - Negrier, C
AU  - Negrier C
FAU - Vinciguerra, C
AU  - Vinciguerra C
FAU - Aktan, M
AU  - Aktan M
FAU - Kaufman, R J
AU  - Kaufman RJ
FAU - Ginsburg, D
AU  - Ginsburg D
FAU - Seligsohn, U
AU  - Seligsohn U
LA  - eng
SI  - GENBANK/AF081865
SI  - GENBANK/AF081866
SI  - GENBANK/AF081867
SI  - GENBANK/AF081868
SI  - GENBANK/AF081869
SI  - GENBANK/AF081870
SI  - GENBANK/AF081871
SI  - GENBANK/AF081872
SI  - GENBANK/AF081873
SI  - GENBANK/AF081874
SI  - GENBANK/AF081875
SI  - GENBANK/AF081876
SI  - GENBANK/AF081877
SI  - GENBANK/AF081878
SI  - GENBANK/AF081879
SI  - GENBANK/AF081880
SI  - GENBANK/AF081881
SI  - GENBANK/AF081882
SI  - GENBANK/AF081883
SI  - GENBANK/AF081884
SI  - GENBANK/AF081885
SI  - GENBANK/AH007733
GR  - HL39693/HL/NHLBI NIH HHS/United States
GR  - HL57346/HL/NHLBI NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Blood
JT  - Blood
JID - 7603509
RN  - 0 (LMAN1 protein, human)
RN  - 0 (Mannose-Binding Lectins)
RN  - 0 (Membrane Proteins)
SB  - AIM
SB  - IM
MH  - Amino Acid Substitution
MH  - Chromosomes, Bacterial
MH  - Cloning, Molecular
MH  - DNA Mutational Analysis
MH  - Exons/genetics
MH  - Factor V Deficiency/complications/ethnology/*genetics
MH  - Female
MH  - *Genes
MH  - Genes, Recessive
MH  - Genetic Heterogeneity
MH  - Genetic Linkage
MH  - Genotype
MH  - Haplotypes
MH  - Hemophilia A/complications/ethnology/*genetics
MH  - Humans
MH  - Introns/genetics
MH  - Jews/genetics
MH  - Male
MH  - *Mannose-Binding Lectins
MH  - Membrane Proteins/deficiency/*genetics
MH  - *Mutation
MH  - Pedigree
MH  - Point Mutation
MH  - Polymerase Chain Reaction
MH  - Sequence Deletion
EDAT- 1999/03/26 00:00
MHDA- 1999/03/26 00:01
CRDT- 1999/03/26 00:00
PHST- 1999/03/26 00:00 [pubmed]
PHST- 1999/03/26 00:01 [medline]
PHST- 1999/03/26 00:00 [entrez]
PST - ppublish
SO  - Blood. 1999 Apr 1;93(7):2261-6.