Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria. [electronic resource]
Producer: 20190611Description: 2550-2561 p. digitalISSN:- 1873-3468
- Alleles
- Amino Acid Sequence
- Amino Acid Substitution -- genetics
- Aspartylglucosaminuria -- enzymology
- Aspartylglucosylaminase -- chemistry
- Crystallography, X-Ray
- Finland
- Homeostasis -- genetics
- Humans
- Lysosomal Storage Diseases -- genetics
- Models, Molecular
- Point Mutation
- Protein Structure, Secondary
- Proteolysis
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Publication Type: Journal Article; Research Support, N.I.H., Extramural
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