Seeman, Pavel <br/><br/>
A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.  [electronic resource] 

 -  International journal of molecular medicine  Feb 2002 
 - 125-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1107-3756 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Child, Preschool<br/>Codon--genetics<br/>Czech Republic<br/>DNA Mutational Analysis<br/>Exons--genetics<br/>Fatal Outcome<br/>Female<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Mutation, Missense--genetics<br/>Myelin Proteolipid Protein--genetics<br/>Pedigree<br/>Pelizaeus-Merzbacher Disease--genetics<br/>Phenotype<br/>Restriction Mapping