Funghini, S <br/><br/>
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.  [electronic resource] 

 -  Molecular genetics and metabolism  Jul 2001 
 - 268-75 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1096-7192 
<br/><br/><label>Standard No.: </label>10.1006/mgme.2001.3191  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Brain--pathology<br/>Cells, Cultured<br/>Child, Preschool<br/>Codon, Nonsense<br/>DNA, Complementary--metabolism<br/>Female<br/>Fibroblasts--metabolism<br/>Humans<br/>Italy<br/>Magnetic Resonance Imaging<br/>Male<br/>Meglutol--urine<br/>Mothers<br/>Oxo-Acid-Lyases--genetics<br/>Pedigree<br/>Polymerase Chain Reaction<br/>RNA--metabolism