Mizugishi, K <br/><br/>
Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I.  [electronic resource] 

 -  Brain & development  Jun 1999 
 - 223-8 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(99)00004-2  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Child<br/>Congenital Disorders of Glycosylation--blood<br/>DNA Mutational Analysis<br/>Female<br/>Humans<br/>Isoelectric Focusing<br/>Japan<br/>Mutation, Missense<br/>Phosphotransferases (Phosphomutases)--genetics<br/>Polymerase Chain Reaction<br/>Transferrin--analogs & derivatives