Copy-number variations in EYS: A significant event in the appearance of arRP

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 8, 2011, Pages 5625-5631

  Pieras, Juan I ^a,b   Barragán, Isabel ^a,b   Borrego, Salud ^a,b   Audo, Isabelle ^c,d,e,f   González Del, María Pozo ^a,b   Bernal, Sara ^b,g   Baiget, Montserrat ^b,g   Zeitz, Christina ^c,d,e   Bhattacharya, Shomi S ^h   Antiñolo, Guillermo ^a,b  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

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

^c INSERM   (France)

^d CNRS   (France)

^e SORBONNE UNIVERSITÉ   (France)

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

^g HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

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

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; CAPILLARY ELECTROPHORESIS; CONTROLLED STUDY; COPY NUMBER VARIATION; EYS GENE; GENE; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; PROTEIN STRUCTURE; RETINITIS PIGMENTOSA; DNA PROBE; FAMILY HEALTH; FEMALE; FRANCE; GENE DOSAGE; GENETIC VARIABILITY; GENETICS; MALE; METHODOLOGY; PATHOLOGY; POINT MUTATION; RECESSIVE GENE; REPRODUCIBILITY; SPAIN; STANDARD;

EYE PROTEIN; EYS PROTEIN, HUMAN;

BASE SEQUENCE; DNA PROBES; EYE PROTEINS; FAMILY HEALTH; FEMALE; FRANCE; GENE DELETION; GENE DOSAGE; GENE REARRANGEMENT; GENES, RECESSIVE; GENETIC TESTING; GENETIC VARIATION; HUMANS; MALE; PHENOTYPE; POINT MUTATION; PREVALENCE; REPRODUCIBILITY OF RESULTS; RETINITIS PIGMENTOSA; SPAIN;

EID: 80053327706     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-7292     Document Type: Article

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