A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

Journal of Medical Genetics

Volumn 51, Issue 7, 2014, Pages 460-469

  Khateb, Samer ^a   Zelinger, Lina ^a   Mizrahi Meissonnier, Liliana ^a   Ayuso, Carmen ^b   Koenekoop, Robert K ^c   Laxer, Uri ^a   Gross, Menachem ^a   Banin, Eyal ^a   Sharon, Dror ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CENTROSOME; CONTROLLED STUDY; ELECTRON MICROSCOPY; ELECTRORETINOGRAPHY; EXOME; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HUMAN CELL; MITOSIS INHIBITION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; RESPIRATORY SYSTEM; RETINA DEGENERATION; USHER SYNDROME; VISUAL ACUITY; WESTERN BLOTTING; CONSANGUINITY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; MALE; PATHOLOGY; PEDIGREE; PHYLOGENY; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

AUTOANTIGEN; C2ORF71 PROTEIN, HUMAN; CELL CYCLE PROTEIN; CEP250 PROTEIN, HUMAN; EYE PROTEIN; STOP CODON;

AUTOANTIGENS; BASE SEQUENCE; CELL CYCLE PROTEINS; CODON, NONSENSE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; PHYLOGENY; POLYMORPHISM, SINGLE NUCLEOTIDE; USHER SYNDROMES;

EID: 84902549923     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102287     Document Type: Article

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