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Article

Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome.

Annals of hematology - 1 Dec 2015

Qiao Jianlin, Davis Amanda K, Morel-Kopp Marie-Christine, Ward Christopher M, Gardiner Elizabeth E, Andrews Robert K

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PMID: 26275786
DOI: 10.1007/s00277-015-2473-1

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Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome.PMID 26275786Read ↗

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 ↗

Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations?Semantic proximity Read ↗

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

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