Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T). [electronic resource]
Producer: 20120905Description: 325-34 p. digitalISSN:- 1573-2665
- Case-Control Studies
- Cell Line
- Fabry Disease -- enzymology
- Female
- Glycogen Storage Disease Type II -- enzymology
- HEK293 Cells
- Humans
- Lysosomes -- genetics
- Male
- Mutagenesis, Site-Directed -- methods
- Mutation, Missense
- Transfection -- methods
- alpha-Galactosidase -- genetics
- alpha-Glucosidases -- genetics
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Publication Type: Journal Article
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