TY  - GEN
AU  - Brun-Heath,Isabelle
AU  - Lia-Baldini,Anne-Sophie
AU  - Maillard,Stéphane
AU  - Taillandier,Agnès
AU  - Utsch,Boris
AU  - Nunes,Mark E
AU  - Serre,Jean-Louis
AU  - Mornet,Etienne
TI  - Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia
SN  - 1769-7212
PY  - 2007///1121
KW  - Alkaline Phosphatase
KW  - chemistry
KW  - Animals
KW  - Base Sequence
KW  - Biological Transport, Active
KW  - COS Cells
KW  - Cell Membrane
KW  - enzymology
KW  - Chlorocebus aethiops
KW  - DNA Primers
KW  - genetics
KW  - Female
KW  - Golgi Apparatus
KW  - Humans
KW  - Hypophosphatemia, Familial
KW  - Infant
KW  - Microscopy, Fluorescence
KW  - Models, Molecular
KW  - Mutation, Missense
KW  - Plasmids
KW  - Recombinant Fusion Proteins
KW  - Transfection
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ejmg.2007.06.005
ER  -