Novel recessive cone-rod dystrophy caused by POC1B mutation

JAMA Ophthalmology

Volumn 132, Issue 10, 2014, Pages 1185-1191

  Durlu, Yusuf K ^a   Köroʇlu, Çiʇdem ^b   Tolun, Aslihan ^b  

^a Fahrettin Kerim Gökay   (Turkey)

^b BOGAZICI UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

DUAL SPECIFICITY PHOSPHATASE 6; ORGANIC ANION TRANSPORTER B; CELL CYCLE PROTEIN; POC1B PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOFLUORESCENCE IMAGING; CASE REPORT; CENPC1P1 GENE; COLOR FUNDUS; COLOR VISION DEFECT; CONE ROD DYSTROPHY; CONTROLLED STUDY; DCN GENE; DUAL SPECIFICITY PHOSPHATASE 6 GENE; ELECTROPHYSIOLOGY; EYE EXAMINATION; EYE FUNDUS; FEMALE; GALNT4 GENE; GENE; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; LOC100287505 GENE; LOC338758 GENE; LUM GENE; MALE; MIDDLE AGED; MRPL2P1 GENE; MRPS6P4 GENE; NUCLEOTIDE SEQUENCE; NYSTAGMUS; OBSERVATIONAL STUDY; ORGANIC ANION TRANSPORTER B GENE; PHENOTYPE; PHOTOPHOBIA; PHOTOPIC VISION; PHOTORECEPTOR INNER SEGMENT; PHOTORECEPTOR OUTER SEGMENT; POC1B GENE; PROSPECTIVE STUDY; PSEUDOGENE; RETINA CONE; RETINA DYSTROPHY; RETINA FOVEA; RETINA ROD; RETINA ROD OUTER SEGMENT; SANGER SEQUENCING; SINGLE NUCLEOTIDE POLYMORPHISM; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISION; CHROMOSOME 12; CHROMOSOME MAP; CONSANGUINITY; ELECTRORETINOGRAPHY; GENETICS; MISSENSE MUTATION; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE; RECESSIVE GENE; RETINITIS PIGMENTOSA;

ADOLESCENT; ADULT; CELL CYCLE PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 84908108602     PISSN: 21686165     EISSN: 21686173     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2014.1658     Document Type: Article

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