A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.

Malekkou, Anna; Sevastou, Ioanna; Mavrikiou, Gavriella; Georgiou, Theodoros; Vilageliu, Lluisa; Moraitou, Marina; Michelakakis, Helen; Prokopiou, Chrystalla; Drousiotou, Anthi

Malekkou, Anna; Sevastou, Ioanna; Mavrikiou, Gavriella; Georgiou, Theodoros; Vilageliu, Lluisa; Moraitou, Marina; Michelakakis, Helen; Prokopiou, Chrystalla; Drousiotou, Anthi.

Afiliação

Malekkou A; Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Sevastou I; Cyprus School of Molecular Medicine, Nicosia, Cyprus.
Mavrikiou G; Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Georgiou T; Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Vilageliu L; Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Moraitou M; Cyprus School of Molecular Medicine, Nicosia, Cyprus.
Michelakakis H; Department of Genetics, Faculty of Biology, Universitat de Barcelona, IBUB, CIBERER, Barcelona, Spain.
Prokopiou C; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
Drousiotou A; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.

Mol Genet Genomic Med ; 8(3): e1090, 2020 03.

Article em En | MEDLINE | ID: mdl-31943857

Assuntos

Doença de Gaucher/genética; Glucosilceramidase/genética; Mutação Puntual; Adulto; Feminino; Doença de Gaucher/patologia; Testes Genéticos/métodos; Humanos; Íntrons; Sítios de Splice de RNA; RNA-Seq/métodos

Palavras-chave

GBA; Cypriot; Gaucher disease; deep intronic mutation; glucocerebrosidase

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação Puntual / Doença de Gaucher / Glucosilceramidase Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Chipre

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