Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.

Brun-Heath, Isabelle

Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia. [electronic resource] - European journal of medical genetics - 367-78 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1769-7212

10.1016/j.ejmg.2007.06.005 doi


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