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Article

Vulnerable mutation Trp126-->stop of glycoprotein IX in Japanese Bernard-Soulier syndrome.

European journal of haematology - 1 Apr 1998

Iwanaga M, Kunishima S, Ikeda S, Tomonaga M, Naoe T

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Identifiers

PMID: 9579882
DOI: 10.1111/j.1600-0609.1998.tb01035.x

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Vulnerable mutation Trp126-->stop of glycoprotein IX in Japanese Bernard-Soulier syndrome.PMID 9579882Read ↗

Single novel mutation in transmembrane region of glycoprotein (GP) IX affects GP Ib- IX complex expression and causes Bernard-Soulier syndrome.Semantic proximity Read ↗

Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein Ibβ mutation.Semantic proximity Read ↗

Factor XI deficiency as a result of a novel Tyr347Stop nonsense mutation in an elderly Japanese woman.Semantic proximity Read ↗

Mutation of Factor IX Cys178 is intolerant and may cause severe hemophilia B.Semantic proximity Read ↗

[Molecular biological study of glycoprotein IX gene defect in Bernard-Soulier syndrome].Semantic proximity Read ↗

Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome.Semantic proximity Read ↗

A novel mutation in the GP1BA gene in Bernard-Soulier syndrome.Semantic proximity Read ↗

Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop).Semantic proximity Read ↗

Identification of a homozygous Cys410Ser mutation in the von Willebrand factor D2 domain causing type 2A(IIC) von Willebrand disease phenotype in an Iranian patient.Semantic proximity Read ↗

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 ↗

A stop codon in a patient with severe type III von Willebrand disease.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 ↗

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