A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa

PURPOSE: Retinitis pigmentosa (RP) is an inherited retinal disorder that results in the degeneration of photoreceptor cells, ultimately leading to severe visual impairment. We characterized a consanguineous family from Southern India wherein a 25 year old individual presented with night blindness si...

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Detalles Bibliográficos
Autores principales: Woodard, DaNae R., Xing, Chao, Ganne, Pratyusha, Liang, Hanquan, Mahindrakar, Avinash, Sankurathri, Chandrasekhar, Hulleman, John D., Mootha, V. Vinod
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056470/
https://www.ncbi.nlm.nih.gov/pubmed/33907372

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056470/
https://www.ncbi.nlm.nih.gov/pubmed/33907372

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