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

Internet

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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