Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones

Mutations in the photoreceptor-specific tetraspanin gene peripherin-2 (PRPH2) lead to widely varying forms of retinal degeneration ranging from retinitis pigmentosa to macular dystrophy. Both inter- and intra-familial phenotypic heterogeneity has led to much interest in uncovering the complex pathog...

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Detalles Bibliográficos
Autores principales: Ikelle, Larissa, Makia, Mustafa, Lewis, Tylor, Crane, Ryan, Kakakhel, Mashal, Conley, Shannon M., Birtley, James R., Arshavsky, Vadim Y., Al-Ubaidi, Muayyad R., Naash, Muna I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10356684/
https://www.ncbi.nlm.nih.gov/pubmed/37466729
http://dx.doi.org/10.1007/s00018-023-04851-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10356684/
https://www.ncbi.nlm.nih.gov/pubmed/37466729
http://dx.doi.org/10.1007/s00018-023-04851-3

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