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Platelet glycoprotein 1b beta polypeptide

Glycoprotein 1b is a receptor exposed on the surface of platelets where it binds von Willebrand factor. Mutations can cause the autosomal recessive disorder Bernard-Soulier syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 10 days
Specimen type genomic DNA

Related Diseases:

Bernard-Soulier syndrome
GP1BA
GP1BB
GP9

References:

1.

Kunishima S et al. (1997) Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.

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2.

Moran N et al. (2000) Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome.

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3.

Budarf ML et al. (1995) Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

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4.

Ludlow LB et al. (1996) Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome.

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5.

Orphanet article

Orphanet ID 122241 external link
6.

NCBI article

NCBI 2812 external link
7.

OMIM.ORG article

Omim 138720 external link
8.

Wikipedia article

Wikipedia EN (GP1BB) external link
Update: Aug. 14, 2020
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