Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene

Ophthalmology

Volumn 112, Issue 9, 2005, Pages 1592-1598

  Michaelides, Michel ^a,b   Holder, Graham E ^b   Bradshaw, Keith ^c   Hunt, David M ^a   Moore, Anthony T ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PERIPHERIN; INTERMEDIATE FILAMENT PROTEIN; MEMBRANE PROTEIN; NERVE PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOFLUORESCENCE; BLOOD SAMPLING; CHROMOSOME 6P; CLINICAL ARTICLE; COLOR VISION; CONSANGUINITY; CONTROLLED STUDY; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; EXON; EYE FUNDUS; FEMALE; GENE MUTATION; HUMAN; LINKAGE ANALYSIS; MALE; MOLECULAR GENETICS; NIGHT BLINDNESS; OPHTHALMOLOGY; OPHTHALMOSCOPY; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA MACULA LUTEA; RETINA ROD; VISUAL ACUITY; CHROMOSOME 6; ELECTRORETINOGRAPHY; FAMILY; GENETIC LINKAGE; GENETIC VARIABILITY; GENETICS; GENOTYPE; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHOTORECEPTOR; PHYSIOLOGY; RETINA; RETINA DEGENERATION;

ADOLESCENT; ADULT; AGED; CHROMOSOMES, HUMAN, PAIR 6; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FAMILY; FEMALE; GENOTYPE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; LINKAGE (GENETICS); MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; PENETRANCE; PHOTORECEPTORS, VERTEBRATE; RETINA; RETINAL DEGENERATION; VARIATION (GENETICS);

EID: 24944547546     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2005.04.004     Document Type: Article

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