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POLG gene related diseases / 国际儿科学杂志
International Journal of Pediatrics ; (6): 725-728, 2015.
Article in Chinese | WPRIM | ID: wpr-483225
ABSTRACT
DNA polymerase γis the only known DNA polymerase in human mitochondria,and is essential for mitochondrial DNA replication and repair.DNA polymerase γ is encoded by POLG gene.POLG-related disorders resulted from mutations of POLG gene comprise a continuum of overlapping phenotypes including Alpers Huttenlocher syndrome and other five subtypes, with high prevalence rate at patients with intractable seizure.Genetic testing for POLG mutations in patients with intractable epilepsies is very important for clinical diagnostics, genetic counseling, and treatment decisions because of the increased risk for VPA-induced liver failure in patients with POLG mutations.

Full text: Available Index: WPRIM (Western Pacific) Type of study: Prognostic study Language: Chinese Journal: International Journal of Pediatrics Year: 2015 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Type of study: Prognostic study Language: Chinese Journal: International Journal of Pediatrics Year: 2015 Type: Article