A novel frameshift <i>GP1BB</i> mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation.

Dunstan-Harrison, Caitlin; Morison, Ian M; Ledgerwood, Elizabeth C

A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation.

Dunstan-Harrison, Caitlin; Morison, Ian M; Ledgerwood, Elizabeth C.

Afiliação

Dunstan-Harrison C; Departments of Biochemistry, University of Otago, Dunedin, New Zealand.
Morison IM; Departments of Pathology, University of Otago, Dunedin, New Zealand.
Ledgerwood EC; Departments of Biochemistry, University of Otago, Dunedin, New Zealand.

Platelets ; 33(2): 324-327, 2022 Feb 17.

Article em En | MEDLINE | ID: mdl-33813986

Assuntos

Mutação da Fase de Leitura/genética; Complexo Glicoproteico GPIb-IX de Plaquetas/genética; Glicoproteínas da Membrana de Plaquetas/metabolismo; Trombocitopenia/genética; Feminino; Humanos; Masculino; Agregação Plaquetária

Palavras-chave

GP1BB; macrothrombocytopenia; vWF receptor

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Trombocitopenia / Glicoproteínas da Membrana de Plaquetas / Mutação da Fase de Leitura / Complexo Glicoproteico GPIb-IX de Plaquetas Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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