rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular characterization of Glanzmann's thrombasthenia in Iran: identification of three novel mutations.
|
29084015 |
2017 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
|
20020534 |
2010 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in Glanzmann's thrombasthenia.
|
15634267 |
2005 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.
|
15748237 |
2005 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A variant thrombasthenic phenotype associated with compound heterozygosity of integrin beta3-subunit: (Met124Val)beta3 alters the subunit dimerization rendering a decreased number of constitutive active alphaIIbbeta3 receptors.
|
15583747 |
2004 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Two new beta3 integrin mutations in Indian patients with Glanzmann thrombasthenia: localization of mutations affecting cysteine residues in integrin beta3.
|
12353082 |
2002 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel 196Leu to Pro substitution in the beta3 subunit of the alphaIIbbeta3 integrin in a patient with a variant form of Glanzmann thrombasthenia.
|
11897046 |
2002 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients.
|
12083483 |
2002 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype.
|
11588040 |
2001 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia.
|
10233432 |
1999 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Three novel integrin beta3 subunit missense mutations (H280P, C560F, and G579S) in thrombasthenia, including one (H280P) prevalent in Japanese patients.
|
9790984 |
1998 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A Ser162-->Leu mutation within glycoprotein (GP) IIIa (integrin beta3) results in an unstable alphaIIbbeta3 complex that retains partial function in a novel form of type II Glanzmann thrombasthenia.
|
9684783 |
1998 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Hematologically important mutations: Glanzmann thrombasthenia.
|
9215749 |
1997 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A Leu117-->Trp mutation within the RGD-peptide cross-linking region of beta3 results in Glanzmann thrombasthenia by preventing alphaIIb beta3 export to the platelet surface.
|
9376589 |
1997 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia.
|
8781422 |
1996 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site.
|
1371279 |
1992 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia.
|
1438206 |
1992 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation.
|
1602006 |
1992 |
rs74554539
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation.
|
2392682 |
1990 |