rs121918037
×
Entrez Id:
2815
Gene Symbol:
GP9
GP9
Bernard-Soulier Syndrome
0.730
GeneticVariation
BEFREE
In this work we have generated an induced pluripotent stem cell (BSS3-PBMC-iPS4F8) from peripheral blood mononuclear cells of a BSS patient with a p.Phe55Ser mutation in the GPIX gene.
28395735
2017
rs121918037
×
Entrez Id:
2815
Gene Symbol:
GP9
GP9
Bernard-Soulier Syndrome
0.730
GeneticVariation
UNIPROT
A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex.
12100158
2002
rs121918037
×
Entrez Id:
2815
Gene Symbol:
GP9
GP9
Bernard-Soulier Syndrome
0.730
GeneticVariation
UNIPROT
[A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient].
11758225
2001
rs121918037
×
Entrez Id:
2815
Gene Symbol:
GP9
GP9
Bernard-Soulier Syndrome
0.730
GeneticVariation
UNIPROT
Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome.
11167791
2001
rs121918037
×
Entrez Id:
2815
Gene Symbol:
GP9
GP9
Bernard-Soulier Syndrome
0.730
GeneticVariation
UNIPROT
Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome.
10583255
1999
rs121918037
×
Entrez Id:
2815
Gene Symbol:
GP9
GP9
Bernard-Soulier Syndrome
0.730
GeneticVariation
UNIPROT
A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.
9886312
1998
rs121918037
×
Entrez Id:
2815
Gene Symbol:
GP9
GP9
Bernard-Soulier Syndrome
0.730
GeneticVariation
UNIPROT
A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome .
9163595
1997
rs121918037
×
Entrez Id:
2815
Gene Symbol:
GP9
GP9
Bernard-Soulier Syndrome
0.730
GeneticVariation
BEFREE
Since this mutation is located in the leucine-rich motif (LRM) of the GPIX polypeptide, the Phe55-->Ser substitution may result in an alteration of the LRM which leads to the impaired surface expression of GPIb/IX/V complex, a characteristic of BSS .
9432024
1997
rs121918037
×
Entrez Id:
2815
Gene Symbol:
GP9
GP9
Bernard-Soulier Syndrome
0.730
GeneticVariation
BEFREE
A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome .
9163595
1997
rs121918037
×
Entrez Id:
2815
Gene Symbol:
GP9
GP9
Bernard-Soulier Syndrome
0.730
GeneticVariation
UNIPROT
Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome.
8481514
1993