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New macular findings in individuals with biallelic KLHL7 gene mutation

OBJECTIVE: The ubiquitin-proteasome system pathway has been recognised as a crucial cellular mechanism for the proper function of photoreceptor cells. In particular, ubiquitin ligases (E3s) recognise and ubiquitinate specific proteins for degradation. The KLHL7 protein (a BTB-Kelch protein) has been...

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Detalles Bibliográficos
Autores principales:	Heng, Ling Zhi, Kennedy, Joanna, Smithson, Sarah, Newbury-Ecob, Ruth, Churchill, Amanda
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2019
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440596/ https://www.ncbi.nlm.nih.gov/pubmed/30997404 http://dx.doi.org/10.1136/bmjophth-2018-000234

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