Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Glycoprotein 1b is a receptor exposed on the surface of platelets where it binds von Willebrand factor. Mutations can cause the autosomal recessive or dominant form of Bernard-Soulier syndrome. Genetic variations of this gene have also been associated with nonarteritic anterior ischemic optic neuropathy.
| 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 |
| 1. |
Savoia A et al. (2001) Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. 
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| 2. |
Salomon O et al. (2004) Nonarteritic anterior ischemic optic neuropathy is associated with a specific platelet polymorphism located on the glycoprotein Ibalpha gene.
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| 3. |
Miller JL et al. (1991) Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease.
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| 4. |
Russell SD et al. (1993) Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor.
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| 5. |
Murata M et al. (1993) Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment.
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| 6. |
Orphanet article Orphanet ID 122237
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| 7. |
NCBI article NCBI 2811
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| 8. |
OMIM.ORG article Omim 606672
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| 9. |
Wikipedia article Wikipedia EN (GP1BA)
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