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Article

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.

Annals of hematology - 1 Oct 2014

Machaczka Maciej, Klimkowska Monika

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Identifiers

PMID: 24577513
DOI: 10.1007/s00277-014-2036-x
PMCID: PMC4147243

Genes

GBA1

Variants

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