Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2020
|
| Materias: | |
| 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 |