A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

European Journal of Human Genetics

Volumn 23, Issue 10, 2015, Pages 1318-1327

  Lenassi, Eva ^a,b   Vincent, Ajoy ^c   Li, Zheng ^a,d   Saihan, Zubin ^a   Coffey, Alison J ^e   Steele Stallard, Heather B ^f   Moore, Anthony T ^a   Steel, Karen P ^e   Luxon, Linda M ^g,h   Héon, Elise ^c   Bitner Glindzicz, Maria ^f   Webster, Andrew R ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d SINGAPORE EYE RESEARCH INSTITUTE   (Singapore)

^e WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; SCLEROPROTEIN; USH2A PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; AUDITORY THRESHOLD; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENETIC SCREENING; HEARING; HIGH THROUGHPUT SEQUENCING; HUMAN; INDEL MUTATION; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NIGHT BLINDNESS; NONSYNDROMIC USH2A RETINOPATHY; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RETINA DEGENERATION; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; RETINOPATHY; RNA SPLICING; USH2A GENE; USHER SYNDROME; AGED; DNA MUTATIONAL ANALYSIS; GENETICS; GENOTYPE; INTRON; MUTATION; PEDIGREE; PROCEDURES; QUESTIONNAIRE; RETINA DISEASE;

ADULT; AGED; ALLELES; DNA MUTATIONAL ANALYSIS; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENETIC TESTING; GENOTYPE; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RETINAL DISEASES; RETINITIS PIGMENTOSA; SURVEYS AND QUESTIONNAIRES; USHER SYNDROMES;

EID: 84944174453     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.283     Document Type: Article

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