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- 2013
-
Mark
A novel MT-CO1 m.6498C>A variation associated with the m.7444G>A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes in a patient with hearing impairment, diabetes and congenital visual loss
(
- Contribution to journal › Article
- 2012
-
Mark
A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease
(
- Contribution to journal › Article
- 2011
-
Mark
A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss
(
- Contribution to journal › Article