A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

doi:10.1371/journal.pone.0151943

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Article

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

PloS one - 1 Jan 2016

Sanchez-Alcudia Rocio, Garcia-Hoyos Maria, Lopez-Martinez Miguel Angel, Sanchez-Bolivar Noelia, Zurita Olga, Gimenez Ascension, Villaverde Cristina, Rodrigues-Jacy da Silva Luciana, Corton Marta, Perez-Carro Raquel, Torriano Simona, Kalatzis Vasiliki, Rivolta Carlo, Avila-Fernandez Almudena, Lorda Isabel, Trujillo-Tiebas Maria J, Garcia-Sandoval Blanca, Lopez-Molina Maria Isabel, Blanco-Kelly Fiona, Riveiro-Alvarez Rosa, Ayuso Carmen

Abstract excerpt

Choroideremia (CHM) is a rare X-linked disease leading to progressive retinal degeneration resulting in blindness. The disorder is caused by mutations in the CHM gene encoding REP-1 protein, an essential component of the Rab geranylgeranyltransferase (GGTase) complex. In the present study, we evaluated a multi-technique analysis algorithm to describe the mutational spectrum identified in a large cohort of cases...

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PMID: 27070432
DOI: 10.1371/journal.pone.0151943
PMCID: PMC4829155

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