Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene

[Objectives]: Gaucher disease (GD) is the most common inherited lysosomal storage disease, caused by mutations in acid β-glucosidase (GBA) gene. This study aimed to identify mutations in Andalusia patients with GD and their genotype-phenotype correlation.

Detalles Bibliográficos
Autores: Lepe-Balsalobre, Esperanza, Santotoribio, José D., Nuñez-Vázquez, Ramiro, García-Morillo, Salvador, Jiménez-Arriscado, Pilar, Hernández-Arévalo, Paula, Delarosa-Rodríguez, Rocío, Guerrero, Juan Miguel, Macher, Hada C.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/237952
Acceso en línea:http://hdl.handle.net/10261/237952
Access Level:acceso abierto
Palabra clave:Bone disease
Gaucher disease
GBA gene
β-glucocerebrosidase enzyme
Massive sequencing
Splenomegaly
Thrombocytopenia
Descripción
Sumario:[Objectives]: Gaucher disease (GD) is the most common inherited lysosomal storage disease, caused by mutations in acid β-glucosidase (GBA) gene. This study aimed to identify mutations in Andalusia patients with GD and their genotype-phenotype correlation.

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