|
Thrombasthenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Complex formation of platelet membrane glycoproteins IIb and IIIa with fibrinogen.
|
6460044 |
1982 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Purification of glycoproteins IIb and III from human platelet plasma membranes and characterization of a calcium-dependent glycoprotein IIb-III complex.
|
6213621 |
1982 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have used cDNA probes to analyze the GPIIb and GPIIIa genes in four patients from three kindreds with Glanzmann's thrombasthenia.
|
1967954 |
1990 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation.
|
2392682 |
1990 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have been studying two populations having an unusually high frequency of Glanzmann disease, Iraqi Jews and Arabs living in Israel, and were able to distinguish the populations on the basis of immunodetectable GPIIIa and platelet surface vitronectin receptor (alpha v beta 3) expression.
|
2014236 |
1991 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We have been studying two populations having an unusually high frequency of Glanzmann disease, Iraqi Jews and Arabs living in Israel, and were able to distinguish the populations on the basis of immunodetectable GPIIIa and platelet surface vitronectin receptor (alpha v beta 3) expression.
|
2014236 |
1991 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
CTD_human |
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 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site.
|
1371279 |
1992 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
CTD_human |
A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site.
|
1371279 |
1992 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Application of GPIIIa gene Taq I polymorphism to determination of carrier status in Glanzmann's thrombasthenia families of Chinese origin.
|
8095357 |
1993 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
BEFREE |
A patient (OG) with Glanzmann thrombasthenia became refractory to platelet transfusion following the production of IgG antibodies (Ab1) specific for the integrin subunit beta 3.
|
7543974 |
1995 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia.
|
8781422 |
1996 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The molecular basis of GT in 6 unrelated Iraqi-Jewish patients was previously identified as an 11-bp deletion in exon 12 of the GPIIIa gene.
|
9160670 |
1997 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a new mutation in the GPIIIa gene responsible for type I GT in a consanguineous Algerian family.
|
9226167 |
1997 |
|
Thrombasthenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Hematologically important mutations: Glanzmann thrombasthenia.
|
9215749 |
1997 |
|
Thrombasthenia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Truncation of glycoprotein (GP) IIIa (616-762) prevents complex formation with GPIIb: novel mutation in exon 11 of GPIIIa associated with thrombasthenia.
|
9845537 |
1998 |