Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy

An internet-based health survey on the co-morbidities of choroideremia patients

(2013) Qi Zhou et al.   OPHTHALMIC AND PHYSIOLOGICAL OPTICS

Clinical Characteristics of a Large Choroideremia Pedigree Carrying a Novel CHM Mutation

(2012) Alex S. Huang et al.   ARCHIVES OF OPHTHALMOLOGY

Copy Number Variant Analysis in CHM to Detect Duplications Underlying Choroideremia

(2012) Jonathan Y. Chi et al.   OPHTHALMIC GENETICS

Ultraviolet Phototoxicity to the Retina

(2011) Randolph D Glickman   Eye & Contact Lens-Science and Clinical Practice

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

(2011) Gabriella Esposito et al.   HUMAN MUTATION

Choroideremia: Effect of age on visual acuity in patients and female carriers

(2011) Razek Georges Coussa et al.   OPHTHALMIC GENETICS

Progression of Retinal Pigment Epithelial Alterations During Long-term Follow-up in Female Carriers of Choroideremia and Report of a Novel CHM Mutation

(2009) Agnes B. Renner   ARCHIVES OF OPHTHALMOLOGY

The functional effect of pathogenic mutations in Rab escort protein 1

(2009) Y.V. Sergeev et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Loss-of-Function Mutations in Rab Escort Protein 1 (REP-1) Affect Intracellular Transport in Fibroblasts and Monocytes of Choroideremia Patients

(2009) Natalia V. Strunnikova et al.   PLoS One

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

ISCEV Standard for full-field clinical electroretinography (2008 update)

(2008) M. F. Marmor et al.   DOCUMENTA OPHTHALMOLOGICA

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE