PMID- 11798398
OWN - NLM
STAT- MEDLINE
DCOM- 20020313
LR  - 20061115
IS  - 0953-7104 (Print)
IS  - 0953-7104 (Linking)
VI  - 12
IP  - 8
DP  - 2001 Dec
TI  - Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and 
      glycoprotein IIIa (beta3) genes.
PG  - 486-95
AB  - In this study we have used denaturing gradient gel electrophoresis (DGGE) for 
      identifying sequence alterations in glycoprotein (GP) IIb and IIIa genes from 20 
      patients affected by Glanzmann's thrombasthenia. These patients were from 16 
      different families. Using computer modelling, we divided the promoters, coding 
      sequences and flanking splicing regions, in 31 segments for the GPIIb gene and 19 
      domains for the GPIIIa gene. We were able to find a mutation potentially 
      affecting GPIIb-IIIa expression or function in 16 patients out of 20. In six 
      patients from three families, the gypsy mutation modifying the splice donor site 
      of intron 15 of the GPIIb gene was detected. In the other patients, 10 novel 
      mutations were characterised, which were located either in the GPIIb gene (nine 
      cases) or in the GPIIIa gene (one case). The type of mutation was nonsense 
      mutation (one case), missense mutation (five cases), small insertion of 1 bp (one 
      case) and splicing modifications (three cases). Among these genetic events, three 
      were directly responsible for Glanzmann's thrombasthenia, four were localised in 
      regions known to be involved in GPIIb-IIIa complex expression and three mutations 
      were potentially responsible for Glanzmann's thrombasthenia.
FAU - Vinciguerra, C
AU  - Vinciguerra C
AD  - Laboratoire d'Hemostase, Hospices Civils de Lyon, Hopital Edouard Herriot, INSERM 
      U331, Lyon, France.
FAU - Bordet, J C
AU  - Bordet JC
FAU - Beaune, G
AU  - Beaune G
FAU - Grenier, C
AU  - Grenier C
FAU - Dechavanne, M
AU  - Dechavanne M
FAU - Negrier, C
AU  - Negrier C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Platelets
JT  - Platelets
JID - 9208117
RN  - 0 (Platelet Glycoprotein GPIIb-IIIa Complex)
SB  - IM
MH  - Electrophoresis, Polyacrylamide Gel/methods
MH  - Exons
MH  - Humans
MH  - *Mutation
MH  - Platelet Glycoprotein GPIIb-IIIa Complex/*genetics
MH  - Polymerase Chain Reaction
MH  - Sequence Analysis, DNA
MH  - Thrombasthenia/*genetics
EDAT- 2002/01/19 10:00
MHDA- 2002/03/14 10:01
CRDT- 2002/01/19 10:00
PHST- 2002/01/19 10:00 [pubmed]
PHST- 2002/03/14 10:01 [medline]
PHST- 2002/01/19 10:00 [entrez]
AID - 10.1080/095371001317126383 [doi]
PST - ppublish
SO  - Platelets. 2001 Dec;12(8):486-95. doi: 10.1080/095371001317126383.