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MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy

Pathological variants in the nuclear malonyl-CoA-acyl carrier protein transacylase (MCAT) gene, which encodes a mitochondrial protein involved in fatty-acid biogenesis, have been reported in two siblings from China affected by insidious optic nerve degeneration in childhood, leading to blindness in...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Gerber, Sylvie, Orssaud, Christophe, Kaplan, Josseline, Johansson, Catrine, Rozet, Jean-Michel
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8067165/
https://ncbi.nlm.nih.gov/pubmed/33918393
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12040521
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