Title : Complete mitochondrial DNA sequence analysis in two southern Chinese pedigrees with Leber hereditary optic neuropathy revealed secondary mutations along with the primary mutation.

Pub. Date : 2012

PMID : 22553750






1 Functional Relationships(s)
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1 In addition, there were two secondary mutations in Pedigree 1: C3497T (Ala Val), and C3571T (Leu Phe) in the MT-ND1 gene, which have not been reported; and two secondary mutations occurred in Pedigree 2: A10398G (Thr Ala) in the MT-ND3 gene, and T14502C (Ile Val) in the MT-ND6 gene. Leucine mitochondrially encoded NADH dehydrogenase 1 Homo sapiens