RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation

Human Mutation

Volumn 33, Issue 1, 2012, Pages 73-80

  Audo, Isabelle ^a,b,c,d,e   Mohand Saïd, Saddek ^a,b,c,d   Dhaenens, Claire Marie ^f   Germain, Aurore ^a,b,c   Orhan, Elise ^a,b,c   Antonio, Aline ^a,b,c,d   Hamel, Christian ^g,h   Sahel, José Alain ^a,b,c,d,e,i   Bhattacharya, Shomi S ^a,b,c,e,j   Zeitz, Christina ^a,b,c  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c CNRS   (France)

^d CENTRE HOSPITALIER NATIONAL D OPHTALMOLOGIE DES QUINZE VINGTS   (France)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f LILLE UNIVERSITY HOSPITAL   (France)

^g GUI DE CHAULIAC HOSPITAL   (France)

^h Montpellier University Medical Center   (France)

ⁱ FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^j CABIMER Andalusian Center for Molecular Biology and Regenerative Medicine CSIC University of Seville UPO   (Spain)

more..

Author keywords

adRP; Prevalence study; RP1 mutations

Indexed keywords

EYE PROTEIN; RP1 PROTEIN; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT DISORDER; COHORT ANALYSIS; COLOR VISION DEFECT; EXON; GENE DELETION; GENE MUTATION; GENOTYPE; HUMAN; NONSENSE MUTATION; PATHOGENICITY; PHENOTYPE; PHOTORECEPTOR; PREVALENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; REVIEW; UNITED KINGDOM; UNITED STATES; VISION; VISUAL FIELD;

ADOLESCENT; ADULT; CHILD; CODON, NONSENSE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; FRANCE; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENOTYPE; HAPLOINSUFFICIENCY; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PREVALENCE; RETINAL ROD PHOTORECEPTOR CELLS; RETINITIS PIGMENTOSA; SEQUENCE DELETION;

EID: 84857686711     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21640     Document Type: Review

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