Longo, I <br/><br/>
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.  [electronic resource] 

 -  Journal of medical genetics  Jan 2003 
 - 11-7 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.40.1.11  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Amino Acid Substitution--genetics<br/>Cell Extracts--chemistry<br/>Cell Line<br/>Child<br/>Chromosomes, Human, X--genetics<br/>Coenzyme A Ligases--blood<br/>Female<br/>Genetic Carrier Screening--methods<br/>Genetic Testing--methods<br/>Humans<br/>Infant<br/>Leucine--genetics<br/>Lymphocytes--chemistry<br/>Male<br/>X-Linked Intellectual Disability--blood<br/>Middle Aged<br/>Molecular Diagnostic Techniques--methods<br/>Mutation, Missense--genetics<br/>Pedigree<br/>Proline--genetics<br/>Repressor Proteins<br/>Saccharomyces cerevisiae Proteins<br/>Sex Chromosome Aberrations<br/>Long-Chain-Fatty-Acid-CoA Ligase