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A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.

The molecular lesions in two patients exhibiting classical clinical manifestations of MELAS (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes) syndrome have been investigated. A recently reported disease-related A----G base substitution at nt 3243 of the mtDNA, in the DHU loop...

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Detalhes bibliográficos
Main Authors: Lertrit, P, Noer, A S, Jean-Francois, M J, Kapsa, R, Dennett, X, Thyagarajan, D, Lethlean, K, Byrne, E, Marzuki, S
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682709/
https://ncbi.nlm.nih.gov/pubmed/1323207
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