Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia. [electronic resource]
Producer: 20071121Description: 367-78 p. digitalISSN:- 1769-7212
- Alkaline Phosphatase -- chemistry
- Animals
- Base Sequence
- Biological Transport, Active
- COS Cells
- Cell Membrane -- enzymology
- Chlorocebus aethiops
- DNA Primers -- genetics
- Female
- Golgi Apparatus -- enzymology
- Humans
- Hypophosphatemia, Familial -- enzymology
- Infant
- Microscopy, Fluorescence
- Models, Molecular
- Mutation, Missense
- Plasmids -- genetics
- Recombinant Fusion Proteins -- chemistry
- Transfection
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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