platelet membrane glycoprotein Ib beta precursor [Homo sapiens]

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GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families. [Ann Hematol. 2023]
GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.
Barozzi S, Pecci A, Marinoni M, Fontana G, Zanchetta ME, Noris P, Savoia A, Faleschini M. Ann Hematol. 2023 Mar; 102(3):677-679. Epub 2022 Dec 21.
A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly. [Int J Mol Sci. 2021]
A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.
Barozzi S, Bozzi V, De Rocco D, Giangregorio T, Noris P, Savoia A, Pecci A. Int J Mol Sci. 2021 Sep 22; 22(19). Epub 2021 Sep 22.
A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation. [Platelets. 2022]
A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation.
Dunstan-Harrison C, Morison IM, Ledgerwood EC. Platelets. 2022 Feb 17; 33(2):324-327. Epub 2021 Apr 4.

RefSeq genomic sequence
See the genomic reference sequence for the GP1BB gene (NG_007974.1).
RefSeq protein
See the reference protein sequence for platelet glycoprotein Ib beta chain precursor (NP_000398.1).

Nucleotide
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Protein