A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

A five-generation Hispanic family expressing maternally transmitted Leber hereditary optic neuropathy and/or early-onset dystonia associated with bilateral basal ganglia lesions was studied. Buffy coat mitochondrial DNA (mtDNA) from a severely affected child was amplified by the polymerase chain rea...

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Yayımlandı:	Proc Natl Acad Sci U S A
Asıl Yazarlar:	Jun, A S, Brown, M D, Wallace, D C
Materyal Türü:	Artigo
Dil:	Inglês
Baskı/Yayın Bilgisi:	National Academy of Sciences 1994
Konular:	Research Article
Online Erişim:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC44167/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8016139/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.91.13.6206
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