Yuen, Yuet-Ping <br/><br/>
Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.  [electronic resource] 

 -  Molecular genetics and metabolism  Nov 2002 
 - 249-51 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1096-7192 
<br/><br/><label>Standard No.: </label>10.1016/s1096-7192(02)00110-5  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution<br/>Antiporters--genetics<br/>DNA Mutational Analysis<br/>Female<br/>Glycogen Storage Disease Type I--diagnosis<br/>Humans<br/>Infant<br/>Monosaccharide Transport Proteins--genetics<br/>Mutation, Missense