Choroideremia: A review of general findings and pathogenesis

Ophthalmic Genetics

Volumn 33, Issue 2, 2012, Pages 57-65

  Coussa, Razek Georges ^a   Traboulsi, Elias I ^b  

^a MCGILL UNIVERSITY   (Canada)

^b LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Choroideremia; REP 1; Retinal dystrophy; Review; X linked

Indexed keywords

RAB ESCORT PROTEIN 1; RAB ESCORT PROTEIN 2; RAB PROTEIN; UNCLASSIFIED DRUG;

BIOCHEMISTRY; CELL SURVIVAL; CHOROID GYRATE ATROPHY; CHOROIDEREMIA; CHROMOSOME XQ; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; ELECTRORETINOGRAPHY; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC COUNSELING; HISTOLOGY; HUMAN; KEARNS SAYRE SYNDROME; MOLECULAR GENETICS; NIGHT BLINDNESS; NONHUMAN; NONSENSE MUTATION; OPTICAL COHERENCE TOMOGRAPHY; PATHOGENESIS; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA IMAGE; RETINA PIGMENT DEGENERATION; REVIEW; SEX DIFFERENCE; VISUAL ACUITY; VISUAL DISORDER; VISUAL FIELD;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CHOROIDEREMIA; HUMANS; MUTATION;

EID: 84863483494     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2011.620056     Document Type: Review

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