Novel C2orf71 mutations account for ~1% of cases in a large French arRP cohort

Human Mutation

Volumn 32, Issue 4, 2011, Pages

  Audo, Isabelle ^a,b,c,d,e   Lancelot, Marie Elise ^a,b,c   Mohand Saïd, Saddek ^a,b,c,d   Antonio, Aline ^a,b,c,d   Germain, Aurore ^a,b,c   Sahel, José Alain ^a,b,c,d,e,f   Bhattacharya, Shomi S ^a,b,c,e,g,h   Zeitz, Christina ^a,b,c  

^a INSERM   (France)

^b CNRS   (France)

^c SORBONNE UNIVERSITÉ   (France)

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

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^g HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^h CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

Autosomal recessive retinitis pigmentosa; C2orf71; Rod cone dystrophies

Indexed keywords

CHROMOSOME 2 OPEN READING FRAME 71 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA; CASE REPORT; CHROMOSOME; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MALE; MICROARRAY ANALYSIS; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; STOP CODON;

ADULT; EYE PROTEINS; FEMALE; FRANCE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; RETINITIS PIGMENTOSA;

EID: 79952751060     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21460     Document Type: Article

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