Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing

PLoS ONE

Volumn 9, Issue 8, 2014, Pages

  Watson, Christopher M ^a   El Asrag, Mohammed ^b   Parry, David A ^b   Morgan, Joanne E ^b   Logan, Clare V ^b   Carr, Ian M ^b   Sheridan, Eamonn ^b   Charlton, Ruth ^a   Johnson, Colin A ^b   Taylor, Graham ^a   Toomes, Carmel ^b   McKibbin, Martin ^a,b   Inglehearn, Chris F ^b   Ali, Manir ^b  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; GENOMIC DNA;

ABCA4 GENE; ARTICLE; BBS2 GENE; CONTROLLED STUDY; CRB1 GENE; FEMALE; FRAMESHIFT MUTATION; GENE; GENE IDENTIFICATION; GENE POOL; GENE SEGREGATION; GENE SEQUENCE; GENE TARGETING; GENETIC SCREENING; GENETIC VARIABILITY; GUCY2D GENE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PROM1 GENE; PRPF31 GENE; RDH12 GENE; RETINA DYSTROPHY; RP1 GENE; RP2 GENE; RP9 GENE; RPGRIP1 GENE; SPATA7 GENE; USH2A GENE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PEDIGREE; PROCEDURES;

DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; PEDIGREE; RETINAL DYSTROPHIES;

EID: 84929130185     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0104281     Document Type: Article

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