Leber's hereditary optic neuropathy caused by a mutation in mitochondrial tRNAThr in eight Chinese pedigrees
Author:
Funder
National Natural Science Foundation of China
Wenzhou Science and Technology Bureau
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Molecular Medicine
Reference57 articles.
1. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA;Andrews;Nat. Genet.,1999
2. Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids;Baracca;Arch. Neurol.,2005
3. Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues;Birch-Machin;Methods Cell Biol.,2001
4. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations;Brown;Hum. Mutat.,1995
5. Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders;Carelli;Biochim. Biophys. Acta,2009
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