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Article

Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome.

British journal of haematology - 1 Dec 1994

Simsek S, Noris P, Lozano M, Pico M, von dem Borne A E, Ribera A, Gallardo D

Abstract excerpt

Molecular genetic analysis has been performed on a patient with Bernard-Soulier syndrome (BSS). The patient had characteristically giant platelets and was deficient in the glycoprotein (GP) Ib/IX/V complex, the von Willebrand factor (vWf) receptor on platelets. Previous studies with monoclonal antibodies directed against GP Ib alpha (CD 42b) and GP IX (CD 42a) demonstrated the absence of GP Ib alpha and presence...

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Identifiers

PMID: 7819107
DOI: 10.1111/j.1365-2141.1994.tb05125.x

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Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome.PMID 7819107Read ↗

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Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families.Semantic proximity Read ↗

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Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome.Semantic proximity Read ↗

Molecular and genetic analysis of two patients with Bernard-Soulier syndrome--identification of new mutations in glycoprotein Ib alpha gene.Semantic proximity Read ↗

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Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome.Semantic proximity Read ↗

Bernard-Soulier syndrome Karlstad: Trp 498-->Stop mutation resulting in a truncated glycoprotein Ib alpha that contains part of the transmembranous domain.Semantic proximity Read ↗

The genetic defect in two well-studied cases of Bernard-Soulier syndrome: a point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ib alpha.Semantic proximity Read ↗

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