A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report

Choroideremia is an X-linked recessive condition presenting in males, with progressive degeneration of retinal and choroidal tissues leading to progressive visual loss. Its pathological mechanism is due to alterations in the CHM gene that encodes for REP1, a protein required for prenylation of Rab b...

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Detalles Bibliográficos
Autores principales: Di Giosaffatte, Niccolò, Valiante, Michele, Tricarico, Stefano, Parise, Giulia, De Negri, Anna Maria, Ricciotti, Guido, Florean, Lara, Paiardini, Alessandro, Bottillo, Irene, Grammatico, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321261/
https://www.ncbi.nlm.nih.gov/pubmed/35886051
http://dx.doi.org/10.3390/genes13071268

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321261/
https://www.ncbi.nlm.nih.gov/pubmed/35886051
http://dx.doi.org/10.3390/genes13071268

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