Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction

Ophthalmology

Volumn 120, Issue 6, 2013, Pages 1239-1246

  Roosing, Susanne ^a,b,c   Van Den Born, L Ingeborgh ^d   Hoyng, Carel B ^a   Thiadens, Alberta A H J ^e   De Baere, Elfride ^f   Collin, Rob W J ^a,b,c   Koenekoop, Robert K ^g   Leroy, Bart P ^f,g   Van Moll Ramirez, Norka ^f,h   Venselaar, Hanka ^a   Riemslag, Frans C C ^d,i   Cremers, Frans P M ^a,b   Klaver, Caroline C W ^e   Den Hollander, Anneke I ^a,b,c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^d ROTTERDAM EYE HOSPITAL   (Netherlands)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

^g MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^h Center of Expertise for Blind and Partially Sighted People   (Netherlands)

ⁱ Bartimeus Institute for the Visually Impaired   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PEPTIDES AND PROTEINS; PROTEIN TULP1; RESTRICTION ENDONUCLEASE; UNCLASSIFIED DRUG;

ALPHA HELIX; ARTICLE; AUTOFLUORESCENCE; BETA SHEET; CASE STUDY; CHROMOSOME 6; COHORT ANALYSIS; COLOR VISION DEFECT; CONE DYSTROPHY; ELECTRORETINOGRAM; ELECTRORETINOGRAPHY; EYE FUNDUS; EYE PHOTOGRAPHY; GENE SEQUENCE; GENOME; HOMOZYGOSITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MEDICAL HISTORY; MICROARRAY ANALYSIS; MICROSATELLITE MARKER; MISSENSE MUTATION; PERIMETRY; PRIORITY JOURNAL; PROTEIN DOMAIN; RETINA CONE ROD DYSTROPHY; RETINA DISEASE; RETINITIS PIGMENTOSA; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; UNIPARENTAL DISOMY; VISUAL ACUITY; VISUAL FIELD;

ADULT; AMINO ACID SEQUENCE; CHROMOSOMES, HUMAN, PAIR 6; COLOR VISION DEFECTS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; HOMOZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MOTHERS; MUTATION, MISSENSE; PEDIGREE; PHOTORECEPTOR CELLS, VERTEBRATE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, SECONDARY; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DYSTROPHIES; TOMOGRAPHY, OPTICAL COHERENCE; UNIPARENTAL DISOMY; VISUAL ACUITY; VISUAL FIELD TESTS;

EID: 84878547254     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2012.12.005     Document Type: Article

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