Felhi, Rahma <br/><br/>
Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.  [electronic resource] 

 -  Clinica chimica acta; international journal of clinical chemistry  Jan 2019 
 - 104-110 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1873-3492 
<br/><br/><label>Standard No.: </label>10.1016/j.cca.2018.11.003  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Child<br/>DNA Polymerase gamma--genetics<br/>DNA, Mitochondrial--genetics<br/>Humans<br/>Intestinal Pseudo-Obstruction--genetics<br/>Male<br/>Mitochondrial Encephalomyopathies--genetics<br/>Muscular Dystrophy, Oculopharyngeal<br/>Mutation<br/>Ophthalmoplegia--congenital<br/>Optic Atrophy--genetics