The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A. [electronic resource]
Producer: 20021210Description: 499-504 p. digitalISSN:- 0264-6021
- Adolescent
- Amino Acid Substitution
- Animals
- Antibodies, Monoclonal
- Arginine
- Cells, Cultured
- Cerebroside-Sulfatase -- chemistry
- Child, Preschool
- Enzyme Stability
- Golgi Apparatus -- metabolism
- Humans
- Leukodystrophy, Metachromatic -- etiology
- Mutation, Missense
- Phosphorylation
- Salts -- chemistry
- Transfection
- Tryptophan
- Valine
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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