Achouitar, Samira <br/><br/>
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.  [electronic resource] 

 -  Molecular genetics and metabolism  Dec 2011 
 - 691-4 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2011.08.021  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Female<br/>Founder Effect<br/>Genetic Association Studies<br/>Hepatomegaly--genetics<br/>Humans<br/>Infant<br/>Male<br/>Mutation, Missense<br/>Phenotype<br/>Phosphorylase Kinase--deficiency