Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip

Ophthalmology

Volumn 118, Issue 1, 2011, Pages 160-167.e3

  Booij, Judith C ^a   Bakker, Arne ^a   Kulumbetova, Jamilia ^a   Moutaoukil, Youssef ^a   Smeets, Bert ^b   Verheij, Joke ^c   Kroes, Hester Y ^d   Klaver, Caroline C W ^e   Van Schooneveld, Mary ^a   Bergen, Arthur A B ^a,f   Florijn, Ralph J ^a  

^a NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PRIMER DNA;

AMPLICON; ARTICLE; BIOCHIP; COMPUTER PROGRAM; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DNA FRAGMENTATION; DNA HYBRIDIZATION; DNA MICROARRAY; DNA SCREENING; DNA SEQUENCE; EXON; GENE; GENE AMPLIFICATION; GENE DELETION; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM; STARGARDT DISEASE; UNINDEXED SEQUENCE;

EID: 78650820623     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2010.04.022     Document Type: Article

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