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Article

Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein Ibβ mutation.

Acta haematologica - 1 Jan 2014

Sato Tetsuji, Kunishima Shinji, Shirayama Rie, Ichikawa Shun, Sakai Michio, Kusuhara Koichi

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PMID: 24051937
DOI: 10.1159/000351057

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Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein Ibβ mutation.PMID 24051937Read ↗

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Von Willebrand disease caused by compound heterozygosity for p.r854q and p.r760c: diagnostic and therapeutic implications.Semantic proximity Read ↗

Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome.Semantic proximity Read ↗

Bernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review.Semantic proximity Read ↗

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