Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
On the surface of platelets glycoprotein 9 combines with glycoprotein 1b to form a receptor for von Willebrand factor. Mutations can cause the autosomal recessive disorder Bernard-Soulier syndrome.
| 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. |
NCBI article NCBI 2815
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| 2. |
OMIM.ORG article Omim 173515
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| 3. |
Orphanet article Orphanet ID 122244
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| 4. |
Wikipedia article Wikipedia EN (Glycoprotein_IX)
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