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Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family.

An Italian pedigree including two sisters and their mother affected by a neuro-ophthalmic disease characterised by retinitis pigmentosa, ataxia, and psychomotor retardation is reported. Molecular analysis of mitochondrial DNA showed the presence of heteroplasmic 8993 point mutation in the subunit 6...

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Detalhes bibliográficos
Main Authors: Puddu, P, Barboni, P, Mantovani, V, Montagna, P, Cerullo, A, Bragliani, M, Molinotti, C, Caramazza, R
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC504435/
https://ncbi.nlm.nih.gov/pubmed/8435424
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