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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

Machaczka, M (author)
Karolinska Institutet
Klimkowska, M (author)
 (creator_code:org_t)
2014-02-28
2014
English.
In: Annals of hematology. - : Springer Science and Business Media LLC. - 1432-0584 .- 0939-5555. ; 93:10, s. 1787-1789
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