Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene

PURPOSE: NEUROD1 is a tissue-specific basic helix loop helix (bHLH) protein involved in the development and maintenance of the endocrine pancreas and neuronal elements. Loss of NEUROD1 causes ataxia, cerebellar hypoplasia, sensorineural deafness, and severe retinal dystrophy in mice. Heterozygous lo...

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Detalles Bibliográficos
Autores principales: Orosz, Orsolya, Czeglédi, Miklós, Kántor, Irén, Balogh, István, Vajas, Attila, Takács, Lili, Berta, András, Losonczy, Gergely
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4323689/
https://www.ncbi.nlm.nih.gov/pubmed/25684977

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4323689/
https://www.ncbi.nlm.nih.gov/pubmed/25684977

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