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Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia
BACKGROUND: The clinical phenotyping of patients with achromatopsia harboring variants in PDE6C has poorly been described in the literature. PDE6C encodes the catalytic subunit of the cone phosphodiesterase, which hydrolyzes the cGMP that proceeds with the hyperpolarization of photoreceptor cell mem...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Pasteur Institute of Iran
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275818/ https://www.ncbi.nlm.nih.gov/pubmed/32306724 http://dx.doi.org/10.29252/ibj.24.4.257 |