Next-generation genetic testing for retinitis pigmentosa

Human Mutation

Volumn 33, Issue 6, 2012, Pages 963-972

  Neveling, Kornelia ^a,c   Collin, Rob W J ^a,b   Gilissen, Christian ^a,b,c   Van Huet, Ramon A C ^a   Visser, Linda ^d   Kwint, Michael P ^a   Gijsen, Sabine J ^a   Zonneveld, Marijke N ^a   Wieskamp, Nienke ^a   De Ligt, Joep ^a,b,c   Siemiatkowska, Anna M ^a   Hoefsloot, Lies H ^a,c   Buckley, Michael F ^a   Kellner, Ulrich ^e   Branham, Kari E ^f   den Hollander, Anneke I ^a,b,c   Hoischen, Alexander ^a,b,c   Hoyng, Carel ^a,c   Klevering, B Jeroen ^a,c   Van den Born, L Ingeborgh ^d   Veltman, Joris A ^a,b,c   Cremers, Frans P M ^a,b   Scheffer, Hans ^a,c   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Institute for Genetic and Metabolic Diseases   (Netherlands)

^d ROTTERDAM EYE HOSPITAL   (Netherlands)

^e Augen Zentrum Siegburg   (Germany)

^f UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Blindness; Clinical molecular diagnostics; DNA diagnostics; NGS; Retinitis pigmentosa

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DOMINANT INHERITANCE; FEMALE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MALE; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; PATHOGENICITY; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RETINITIS PIGMENTOSA; VALIDATION STUDY; X CHROMOSOME LINKAGE;

ALLELES; COMPUTATIONAL BIOLOGY; FEMALE; GENETIC VARIATION; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; QUALITY CONTROL; REPRODUCIBILITY OF RESULTS; RETINITIS PIGMENTOSA;

EID: 84865170123     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22045     Document Type: Article

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