NMNAT1 variants cause cone and cone-rod dystrophy

Cone and cone-rod dystrophies (CD and CRD, respectively) are degenerative retinal diseases that predominantly affect the cone photoreceptors. The underlying disease gene is not known in approximately 75% of autosomal recessive cases. Variants in NMNAT1 cause a severe, early-onset retinal dystrophy c...

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Enregistré dans:
Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: Nash, Benjamin M., Symes, Richard, Goel, Himanshu, Dinger, Marcel E., Bennetts, Bruce, Grigg, John R., Jamieson, Robyn V.
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2017
Sujets:
Brief Communication
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5839026/
https://ncbi.nlm.nih.gov/pubmed/29184169
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0029-7
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