Characterization of two novel GBA mutati
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Silvia Dominissini; Emanuele Buratti; Bruno Bembi; Marco Baralle; Maria Gabriela
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Article
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2005
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John Wiley and Sons
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English
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The correct identification of disease-causing mutations from the background of harmless nucleotide polymorphisms/substitutions has become a critical issue in the investigation of human genetic diseases. Here, we describe two novel disease-causing splicing mutations in the glucocerebrosidase gene, g.