Steinberg, S J <br/><br/>
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.  [electronic resource] 

 -  Journal of inherited metabolic disease  Feb 2009 
 - 109-19 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural 
<br/><br/><label>ISSN: </label>1573-2665 
<br/><br/><label>Standard No.: </label>10.1007/s10545-008-0969-8  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Amino Acid Sequence<br/>Base Sequence<br/>Cells, Cultured<br/>Female<br/>Fibroblasts--metabolism<br/>Humans<br/>Molecular Sequence Data<br/>Mutation--physiology<br/>Pedigree<br/>Peroxins<br/>Peroxisomes--chemistry<br/>Receptors, Cytoplasmic and Nuclear--genetics<br/>Zellweger Syndrome--diagnosis