Gregersen, N <br/><br/>
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.  [electronic resource] 

 -  Human molecular genetics  Apr 1998 
 - 619-27 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0964-6906 
<br/><br/><label>Standard No.: </label>10.1093/hmg/7.4.619  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acyl-CoA Dehydrogenase<br/>Acyl-CoA Dehydrogenases--deficiency<br/>Alleles<br/>Animals<br/>Blotting, Western<br/>COS Cells<br/>Cells, Cultured<br/>DNA, Complementary--analysis<br/>Female<br/>Fibroblasts--metabolism<br/>Gene Frequency<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Malonates--urine<br/>Mutation<br/>Temperature