Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA

Background: Leigh syndrome (LS) is a serious genetic disease that can be caused by mutations in dozens of different genes. Methods: Clinical study of a deafness pedigree in which some members developed LS. Cellular, biochemical and molecular genetic analyses of patients’ tissues and cybrid cell line...

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Sparad:
Bibliografiska uppgifter
I publikationen:Genes (Basel)
Huvudupphovsmän: Habbane, Mouna, Llobet, Laura, Bayona-Bafaluy, M. Pilar, Bárcena, José E., Ceberio, Leticia, Gómez-Díaz, Covadonga, Gort, Laura, Artuch, Rafael, Montoya, Julio, Ruiz-Pesini, Eduardo
Materialtyp: Artigo
Språk:Inglês
Publicerad: MDPI 2020
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7565518/
https://ncbi.nlm.nih.gov/pubmed/32867169
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11091007
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