Deep intronic mutation in ofd1, identified by targeted genomic next-generation sequencing, causes a severe form of x-linked retinitis pigmentosa (rp23)

Human Molecular Genetics

Volumn 21, Issue 16, 2012, Pages 3647-3654

  Webb, Tom R ^a   Parfitt, David A ^a   Gardner, Jessica C ^a   Martinez, Ariadna ^b   Bevilacqua, Dalila ^a   Davidson, Alice E ^a   Zito, Ilaria ^a   Thiselton, Dawn L ^a   Ressa, Jacob H C ^a   Apergi, Marina ^a   Schwarz, Nele ^a   Kanuga, Naheed ^a   Michaelides, Michel ^a,c   Cheetham, Michael E ^a   Gorin, Michael B ^b   Hardcastle, Alison J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b JULES STEIN EYE INSTITUTE   (United States)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

OFD1 PROTEIN; RNA; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DYSOSTOSIS; EXON; GENE EXPRESSION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; IN VIVO STUDY; INTRON; JOUBERT SYNDROME; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RNA SPLICING; SCORING SYSTEM; SIMPSON GOLABI BEHMEL SYNDROME;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, HUMAN, X; EXONS; FRAMESHIFT MUTATION; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; PROTEINS; RETINITIS PIGMENTOSA; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA;

EID: 84865063293     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds194     Document Type: Article

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