Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece

Gaucher disease (GD) is characterized by a marked phenotypic and genetic diversity. It is caused by the functional deficiency of the lysosomal enzyme β-glucocerebrosidase (GCase), which in most instances results from mutations in the GBA1 gene and over 500 different disease causing mutations have be...

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Библиографические подробности

Главные авторы:	Evangelia Dimitriou, Marina Moraitou, Mónica Cozar, Jenny Serra-Vinardell, Lluïsa Vilageliu, Daniel Grinberg, Irene Mavridou, Helen Michelakakis
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Elsevier 2020-09-01
Серии:	Molecular Genetics and Metabolism Reports
Предметы:	Gaucher disease GD Glucocerebrosidase GBA Mutation analysis Greek
Online-ссылка:	http://www.sciencedirect.com/science/article/pii/S2214426920300604
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