Novel Compound Heterozygous Mutations in Two Families With Bernard-Soulier Syndrome
Background: Bernard-Soulier Syndrome (BSS) is a rare autosomal recessive bleeding disorder with large platelets and thrombocytopenia. It is caused by homozygous or compound heterozygous mutations in the GP1BA, GP1BB, or GP9 genes, which together encode the platelet surface receptor glycoprotein comp...
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| Main Authors: | , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2021-01-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |