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Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1

Detalles Bibliográficos
Autores principales:	Machaczka, Maciej, Klimkowska, Monika
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2014
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147243/ https://www.ncbi.nlm.nih.gov/pubmed/24577513 http://dx.doi.org/10.1007/s00277-014-2036-x

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