Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

European Journal of Human Genetics

Volumn 22, Issue 1, 2014, Pages 99-104

  Glöckle, Nicola ^a   Kohl, Susanne ^b   Mohr, Julia ^a   Scheurenbrand, Tim ^a   Sprecher, Andrea ^a   Weisschuh, Nicole ^b   Bernd, Antje ^b   Rudolph, Günther ^c   Schubach, Max ^a   Poloschek, Charlotte ^d   Zrenner, Eberhart ^b   Biskup, Saskia ^a   Berger, Wolfgang ^e,f   Wissinger, Bernd ^b   Neidhardt, John ^e  

^a CEGAT GMBH   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY OF ZURICH   (Switzerland)

^f ETH ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN; EYE PROTEIN; EYS PROTEIN, HUMAN; SCLEROPROTEIN; USH2A PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ARTICLE; BARDET BIEDL SYNDROME; CHOROIDEREMIA; CONGENITAL STATIONARY NIGHT BLINDNESS; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC HETEROGENEITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; NIGHT BLINDNESS; NONSENSE MUTATION; OPEN READING FRAME; PATHOGENICITY; PATIENT COUNSELING; PRIORITY JOURNAL; QUALITY CONTROL; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA; SANGER SEQUENCING; SEGREGATION ANALYSIS; STARGARDT DISEASE; STOP CODON; USHER SYNDROME; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MOLECULAR PATHOLOGY; MUTATION; PATHOLOGY; PEDIGREE; RETINAL DYSTROPHIES; USHER SYNDROMES;

ATP-BINDING CASSETTE TRANSPORTERS; EXONS; EXTRACELLULAR MATRIX PROTEINS; EYE PROTEINS; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; PATHOLOGY, MOLECULAR; PEDIGREE; RETINAL DYSTROPHIES; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA; USHER SYNDROMES;

EID: 84890799156     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.72     Document Type: Article

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