Brun-Heath, Isabelle <br/><br/>
Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.  [electronic resource] 

 -  European journal of medical genetics   
 - 367-78 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1769-7212 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2007.06.005  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alkaline Phosphatase--chemistry<br/>Animals<br/>Base Sequence<br/>Biological Transport, Active<br/>COS Cells<br/>Cell Membrane--enzymology<br/>Chlorocebus aethiops<br/>DNA Primers--genetics<br/>Female<br/>Golgi Apparatus--enzymology<br/>Humans<br/>Hypophosphatemia, Familial--enzymology<br/>Infant<br/>Microscopy, Fluorescence<br/>Models, Molecular<br/>Mutation, Missense<br/>Plasmids--genetics<br/>Recombinant Fusion Proteins--chemistry<br/>Transfection