Capo-Chichi, José-Mario <br/><br/>
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.  [electronic resource] 

 -  Journal of medical genetics  May 2015 
 - 303-11 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2014-102952  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Brain Diseases--diagnosis<br/>Chromosome Mapping<br/>Consanguinity<br/>DNA Mutational Analysis<br/>Endopeptidase Clp--genetics<br/>Exome<br/>Gene Knockdown Techniques<br/>Genetic Association Studies<br/>High-Throughput Nucleotide Sequencing<br/>Homozygote<br/>Humans<br/>Infant, Newborn<br/>Metabolism, Inborn Errors--diagnosis<br/>Microcephaly--diagnosis<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Siblings<br/>Zebrafish