Molecular findings from 537 individuals with inherited retinal disease

Journal of Medical Genetics

Volumn 53, Issue 11, 2016, Pages 761-767

  Ellingford, Jamie M ^a,b   Barton, Stephanie ^a   Bhaskar, Sanjeev ^a   O'Sullivan, James ^a,b   Williams, Simon G ^a   Lamb, Janine A ^d   Panda, Binay ^e   Sergouniotis, Panagiotis I ^a,b,c   Gillespie, Rachel L ^a,b   Daiger, Stephen P ^f   Hall, Georgina ^a   Gale, Theodora ^a   Christopher Lloyd, I ^b,c   Bishop, Paul N ^b,c   Ramsden, Simon C ^a   Black, Graeme C M ^a,b,c  

^a MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e Institute of Bioinformatics and Applied Biotechnology   (India)

^f UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL DECISION MAKING; DIAGNOSTIC VALUE; DISEASE COURSE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HUMAN; INHERITED RETINAL DISEASE; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RETINA DISEASE; RETROSPECTIVE STUDY; USHER SYNDROME; VISUAL IMPAIRMENT;

EID: 84973352728     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-103837     Document Type: Article

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