Yamaguchi, Naoki <br/><br/>
Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.  [electronic resource] 

 -  Human mutation  Feb 2002 
 - 122-30 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.10022  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Age of Onset<br/>Alleles<br/>Asian People--genetics<br/>Base Sequence<br/>Calcium-Binding Proteins--deficiency<br/>Cholestasis--complications<br/>Citrullinemia--diagnosis<br/>Codon, Nonsense--genetics<br/>DNA Mutational Analysis--methods<br/>Female<br/>Gene Frequency--genetics<br/>Genetic Testing--methods<br/>Genotype<br/>Hepatitis--complications<br/>Humans<br/>Infant, Newborn<br/>Japan--epidemiology<br/>Male<br/>Membrane Transport Proteins<br/>Mitochondrial Membrane Transport Proteins<br/>Mitochondrial Proteins<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Mutation, Missense--genetics<br/>Polymerase Chain Reaction<br/>Polymorphism, Restriction Fragment Length