Feldmann, D <br/><br/>
Site specific screening for point mutations in ornithine transcarbamylase deficiency.  [electronic resource] 

 -  Journal of medical genetics  Jul 1992 
 - 471-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0022-2593 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Metabolism, Inborn Errors--enzymology<br/>Ammonia--blood<br/>Base Sequence<br/>Binding Sites--genetics<br/>Female<br/>Heterozygote<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Neonatal Screening--methods<br/>Oligodeoxyribonucleotides--genetics<br/>Ornithine Carbamoyltransferase--genetics<br/>Ornithine Carbamoyltransferase Deficiency Disease<br/>Pedigree<br/>Polymorphism, Restriction Fragment Length<br/>X Chromosome