Leber’s hereditary optic neuropathy – Molecular study of 540 Portuguese patients

Leber's hereditary optic neuropathy (LHON) is a maternal hereditary disease that causes blindness due to optic atrophy, with typical onset during the second or third decade of life and affects predominantly males. The primary etiological factor relates to mutations in the mitochondrial genome....

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Detalhes bibliográficos
Autor principal: Esteves, Sofia (author)
Outros Autores: Nogueira, Célia (author), Evangelista, Teresinha (author), Encarnação, Marisa (author), Teixeira, Marco (author), Neiva, Raquel (author), Pereira, Cristina (author), Vilarinho, Laura (author)
Formato: article
Idioma:eng
Publicado em: 2013
Assuntos:
LHON
Doenças Genéticas
Optic Atrophy
Mitochondrial DNA
Leber Disease
Texto completo:http://hdl.handle.net/10400.18/1170
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/1170

Texto Completo

http://hdl.handle.net/10400.18/1170

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