ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing

Journal of Medical Genetics

Volumn 46, Issue 9, 2009, Pages 620-625

  Burgess, R ^a   MacLaren, R E ^b,c   Davidson, A E ^a   Urquhart, J E ^a   Holder, G E ^b,c   Robson, A G ^b,c   Moore, A T ^b,c   O'Keefe, R ^a   Black, G C M ^a   Manson, F D C ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ASF SF2 PROTEIN; BESTROPHIN 1; LATANOPROST; MEMBRANE PROTEIN; MESSENGER RNA PRECURSOR; OLIGONUCLEOTIDE; PHOSPHOPROTEIN; SC35 PROTEIN; SERINE ARGININE RICH SPLICING FACTOR; SERINE ARGININE RICH SPLICING FACTOR P40; SERINE ARGININE RICH SPLICING FACTOR P55; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHORIORETINOPATHY; COMPARATIVE STUDY; DNA SEQUENCE; EX VIVO STUDY; EXON; FEMALE; GEL MOBILITY SHIFT ASSAY; GENE DELETION; GENE SEQUENCE; GENETIC ASSOCIATION; GLAUCOMA; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; REGULATORY SEQUENCE; RETINA MACULA VITELLIFORM DEGENERATION; RNA SPLICING; VITREORETINOCHOROIDOPATHY; VITREORETINOPATHY; WILD TYPE;

ADULT; BASE SEQUENCE; CHLORIDE CHANNELS; CHOROID DISEASES; EXONS; EYE PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN BINDING; RETINAL DISEASES; RNA SPLICING; RNA, MESSENGER; SEQUENCE ALIGNMENT;

EID: 69749104946     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.059881     Document Type: Article

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