Establishing risk of vision loss in Leber hereditary optic neuropathy

We conducted an updated epidemiological study of Leber hereditary optic neuropathy (LHON) in Australia by using registry data to establish the risk of vision loss among different LHON mutations, sex, age at onset, and mitochondrial haplogroup. We identified 96 genetically unrelated LHON pedigrees, i...

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Detalles Bibliográficos
Autores principales: Lopez Sanchez, M. Isabel G., Kearns, Lisa S., Staffieri, Sandra E., Clarke, Linda, McGuinness, Myra B., Meteoukki, Wafaa, Samuel, Sona, Ruddle, Jonathan B., Chen, Celia, Fraser, Clare L., Harrison, John, Hewitt, Alex W., Howell, Neil, Mackey, David A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8595929/
https://www.ncbi.nlm.nih.gov/pubmed/34670133
http://dx.doi.org/10.1016/j.ajhg.2021.09.015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8595929/
https://www.ncbi.nlm.nih.gov/pubmed/34670133
http://dx.doi.org/10.1016/j.ajhg.2021.09.015

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