van den Berg, I E <br/><br/>
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.  [electronic resource] 

 -  American journal of human genetics  Feb 1995 
 - 381-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Comparative Study; Journal Article 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Base Sequence<br/>Female<br/>Genetic Linkage--genetics<br/>Humans<br/>Infant<br/>Liver--enzymology<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Phosphorylase Kinase--biosynthesis<br/>Point Mutation<br/>Polymerase Chain Reaction<br/>RNA, Messenger--biosynthesis<br/>Sequence Analysis, DNA<br/>Sequence Deletion<br/>Sequence Homology, Amino Acid<br/>X Chromosome