Ono, Hiroaki <br/><br/>
Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia.  [electronic resource] 

 -  Brain & development  Oct 2003 
 - 525-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0387-7604 
<br/><br/><label>Standard No.: </label>10.1016/s0387-7604(03)00063-9  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Codon, Nonsense<br/>Congenital Disorders of Glycosylation--genetics<br/>DNA Mutational Analysis<br/>Exons<br/>Genotype<br/>Humans<br/>Infant<br/>Male<br/>Phosphotransferases (Phosphomutases)--genetics