Uematsu, Mitsugu <br/><br/>
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.  [electronic resource] 

 -  Journal of human genetics  2007 
 - 1040-1043 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1434-5161 
<br/><br/><label>Standard No.: </label>10.1007/s10038-007-0211-9  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Carbon-Carbon Ligases--deficiency<br/>Frameshift Mutation<br/>Humans<br/>Infant, Newborn<br/>Japan<br/>Mutation<br/>Mutation, Missense<br/>Neonatal Screening--methods<br/>Tandem Mass Spectrometry