A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis

CRX is a transcription factor required for activating the expression of many photoreceptor-neuron genes. CRX may be mutated in three forms of human blindness; Leber congenital amaurosis (LCA), cone-rod degeneration (CRD) and retinitis pigmentosa (RP). The pathogenic mechanism in most cases is likely...

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Detalles Bibliográficos
Autores principales: Ibrahim, M. T., Alarcon-Martinez, T., Lopez, I., Fajardo, N., Chiang, J., Koenekoop, R. K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5864841/
https://www.ncbi.nlm.nih.gov/pubmed/29568065
http://dx.doi.org/10.1038/s41598-018-22704-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5864841/
https://www.ncbi.nlm.nih.gov/pubmed/29568065
http://dx.doi.org/10.1038/s41598-018-22704-z

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