Výsledky vyhledávání - "Carol Stugard"

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

Autor: Deborah A. Koontz, Richard H. Haas, John M. Shoffner, John Dixon, Albert S. June, Edwin R. Smith, Carol Stugard, Michael D. Brown, Yoon L. Kim, Stephen C. Pollock, Douglas C. Wallace, Jennifer R. Graham, Allan Kaufman

Publikováno v: Annals of Neurology. 38:163-169

A novel point mutation in the ND6 subunit of complex I at position 14,459 of the mitochondrial DNA (MTND6*LDY T14459A) was identified as a candidate mutation for the highly tissue-specific disease. Leber's hereditary optic neuropathy plus dystonia. S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9d72af91739b1cb081a1b42465c7d82
https://doi.org/10.1002/ana.410380207

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Ancient mtDNA sequences in the human nuclear genome: A potential source of errors in identifying pathogenic mutations

Autor: Carol Stugard, Michael D. Brown, Deborah G. Murdock, Theodore G. Schurr, Douglas C. Wallace

Nuclear-localized mtDNA pseudogenes might explain a recent report describing a heteroplasmic mtDNA molecule containing five linked missense mutations dispersed over the contiguous mtDNA CO1 and CO2 genes in Alzheimer’s disease (AD) patients. To tes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbb948df3c85fb1a6c41a73b6ce6abe7
https://europepmc.org/articles/PMC25135/

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