Whyte, Michael P <br/><br/>
Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry.  [electronic resource] 

 -  The Journal of pediatrics  Jun 2006 
 - 753-8 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>0022-3476 
<br/><br/><label>Standard No.: </label>10.1016/j.jpeds.2006.01.031  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Black or African American--genetics<br/>Alkaline Phosphatase--genetics<br/>Arginine--genetics<br/>Child, Preschool<br/>Cysteine--genetics<br/>Electrophoresis, Gel, Two-Dimensional<br/>Homozygote<br/>Humans<br/>Hypophosphatasia--epidemiology<br/>Infant, Newborn<br/>Isoenzymes--genetics<br/>Male<br/>Mutation, Missense<br/>Pedigree<br/>Prevalence<br/>RNA Splice Sites