Plecko, Barbara <br/><br/>
Confirmation of mutations in   [electronic resource] 

 -  Journal of medical genetics  12 2017 
 - 809-814 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2017-104521  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Alleles<br/>Child<br/>Child, Preschool<br/>Consanguinity<br/>DNA Mutational Analysis<br/>Electroencephalography<br/>Epilepsy--diagnosis<br/>Female<br/>Gene Frequency<br/>Genetic Association Studies<br/>Genetic Predisposition to Disease<br/>Genotype<br/>Humans<br/>Male<br/>Mutation<br/>Phenotype<br/>Proteins--genetics<br/>Pyridoxine--therapeutic use<br/>Vitamin B 6--blood