A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India

OBJECTIVE: This study aimed at identifying the underlying genetic defect in a consanguineous autosomal recessive retinitis pigmentosa (arRP) (RP-1175) family having RP with early macular degeneration, cataract, and myopia. METHODS: Whole-exome sequencing (WES) was performed on the DNA of the proband...

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Detalles Bibliográficos
Autores principales: Goyal, Shiwali, Singh, Kabir, Uppal, Aashna, Vanita, Vanita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10173570/
https://www.ncbi.nlm.nih.gov/pubmed/37170250
http://dx.doi.org/10.1186/s12886-023-02936-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10173570/
https://www.ncbi.nlm.nih.gov/pubmed/37170250
http://dx.doi.org/10.1186/s12886-023-02936-y

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