Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa

European Journal of Ophthalmology

Volumn 22, Issue 4, 2012, Pages 647-653

  Ksantini, Mohamed ^a,b   Lafont, Estèle ^a,b   Bocquet, Béatrice ^a,b   Meunier, Isabelle ^a,b,c   Hamel, Christian P ^a,b,c  

^a Montpellier University Medical Center   (France)

^b UNIV MONTPELLIER   (France)

^c MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

Homozygosity mapping; MERTK; Retinal autofluorescence; Retinitis pigmentosa

Indexed keywords

GENOMIC DNA; PROTEIN MERTK; TYROSINE KINASE RECEPTOR; UNCLASSIFIED DRUG;

ARTICLE; AUTOFLUORESCENCE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA; CASE REPORT; CHILD; CHROMOSOME 2; CHROMOSOME 8; CLINICAL FEATURE; DISEASE SEVERITY; ELECTRORETINOGRAM; EXON; FEMALE; GENE; GENE ACTIVITY; GENE EXPRESSION; GENE FUNCTION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HOMOZYGOSITY; HUMAN; MALE; MERTK GENE; MOROCCO; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; OPHTHALMOLOGY; OPTICAL COHERENCE TOMOGRAPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINA FOVEA; RETINA MACULA LUTEA; RETINA ROD; RETINITIS PIGMENTOSA; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY;

ADOLESCENT; CHILD; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 8; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXONS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENES, RECESSIVE; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PHOTORECEPTOR CELLS, VERTEBRATE; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS; RECEPTOR PROTEIN-TYROSINE KINASES; RETINITIS PIGMENTOSA; SIBLINGS; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 84863734049     PISSN: 11206721     EISSN: None     Source Type: Journal    
DOI: 10.5301/ejo.5000096     Document Type: Article

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