Maxwell, Megan A <br/><br/>
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.  [electronic resource] 

 -  Human mutation  Nov 2002 
 - 342-51 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.10128  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>ATPases Associated with Diverse Cellular Activities<br/>Australia<br/>Base Sequence<br/>Cell Line<br/>Child<br/>Child, Preschool<br/>Codon, Nonsense<br/>Cohort Studies<br/>Exons<br/>Frameshift Mutation<br/>Gene Frequency<br/>Genotype<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Membrane Proteins--genetics<br/>Molecular Sequence Data<br/>Mutation<br/>Peroxisomal Disorders--diagnosis<br/>Peroxisomes--metabolism<br/>Phenotype<br/>Protein Transport<br/>RNA, Messenger--metabolism