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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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Main Authors: | , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
1993
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC504435/ https://ncbi.nlm.nih.gov/pubmed/8435424 |
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