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 |
2. |
OMIM.ORG article Omim 173515 |
3. |
Orphanet article Orphanet ID 122244 |
4. |
Wikipedia article Wikipedia EN (Glycoprotein_IX) |