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Retinal Ciliopathy in the Patient with Transplanted Kidney: Case Report

A review of a rare case of a proven mutation in the RP1 gene (RP1c.2029C>T, p. (ARG677*) in a kidney transplant patient was presented herein. According to his medical history, he had tonsillectomy performed at the age of 20 due to erythrocyturia, and at the age of 32 he was treated for malignant...

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Detalles Bibliográficos
Autores principales: Bućan, Ivona, Bjeloš, Mirjana, Marković, Irena, Bućan, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321797/
https://www.ncbi.nlm.nih.gov/pubmed/35886928
http://dx.doi.org/10.3390/ijms23147582