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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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| Publicado no: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2021
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| 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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