A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice-Reference-Cited by-同舟云学术

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

Published:2016-04-12 Issue:4 Volume:11 Page:e0151943
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

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

Funder

Instituto de Salud Carlos III

Fundacion Conchita Rabago

Fondo de Investigacion Sanitaria

CIBERER

Biobank Fundacion Jimenez Diaz

ONCE

Swiss National Science Foundation

Seventh Framework Programme

France Choroideremia

Retina France

Association Française contre les Myopathies

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference19 articles.

1. GeneReviews^® [Internet];IM MacDonald,1993

2. Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product;MC Seabra;Cell,1992

3. Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase;MC Seabra;Science,1993

4. cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein;DA Andres;Cell,1993

5. Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview;M Preising;Ophthalmic Genet,2004

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