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Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy
Autosomal-dominant Stargardt-like macular dystrophy [Stargardt3 (STGD3)] results from single allelic mutations in the elongation of very-long–chain fatty acids-like 4 (ELOVL4), whereas recessive mutations lead to skin and brain dysfunction. ELOVL4 protein localizes to the endoplasmic reticulum, wher...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3619277/ https://ncbi.nlm.nih.gov/pubmed/23509295 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1217251110 |
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