Publication | Closed Access

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseNovel MutationsPathologySlc25a13 GeneDisease Gene IdentificationMedicineVariant InterpretationClinical Genetics