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

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 600...

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Bibliographic Details
Main Authors: Natalia Borovok, Celeste Weiss, Rajech Sharkia, Michal Reichenstein, Bernd Wissinger, Abdussalam Azem, Muhammad Mahajnah
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Genetics
Subjects:
aryl hydrocarbon receptor
human mutation
infantile nystagmus
gene expression
protein expression
CYP1A1
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.582796/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.582796/full

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