Gene and Protein Expression in Subjects With a Nystagmus-Associated AHR Mutation

Recently, a consanguineous family was identified in Israel with three children affected by Infantile Nystagmus and Foveal Hypoplasia, following an autosomal recessive mode of inheritance. A homozygous stop mutation c.1861C > T; p.Q621(∗) in the aryl hydrocarbon receptor (AHR) gene (AHR; MIM 60025...

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Detalles Bibliográficos
Autores principales: Borovok, Natalia, Weiss, Celeste, Sharkia, Rajech, Reichenstein, Michal, Wissinger, Bernd, Azem, Abdussalam, Mahajnah, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7542227/
https://www.ncbi.nlm.nih.gov/pubmed/33193710
http://dx.doi.org/10.3389/fgene.2020.582796

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7542227/
https://www.ncbi.nlm.nih.gov/pubmed/33193710
http://dx.doi.org/10.3389/fgene.2020.582796

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