U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation

Human Mutation

Volumn 32, Issue 7, 2011, Pages 815-824

  Schmid, Fabian ^a   Glaus, Esther ^a   Barthelmes, Daniel ^b   Fliegauf, Manfred ^c   Gaspar, Harald ^d   Nürnberg, Gudrun ^e   Nürnberg, Peter ^e   Omran, Heymut ^f   Berger, Wolfgang ^a   Neidhardt, John ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

BBS1; Gene therapy; Retinitis pigmentosa; Splice defect; Splicing; U1 snRNA

Indexed keywords

LENTIVIRUS VECTOR; SMALL NUCLEAR RNA;

ALTERNATIVE RNA SPLICING; ARTICLE; BARDET BIEDL SYNDROME; BLOOD PRESSURE; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CONSANGUINEOUS MARRIAGE; DIABETES MELLITUS; DONOR SITE; ELECTRORETINOGRAPHY; EXON; FEMALE; FIBROBLAST; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; HOMOZYGOSITY; HOSPITAL ADMISSION; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; INTRAOCULAR PRESSURE; INTRON; LEARNING DISORDER; MALE; MYDRIASIS; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; OUTCOME ASSESSMENT; PERIMETRY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SLIT LAMP; VISUAL ACUITY;

ADULT; BARDET-BIEDL SYNDROME; CELLS, CULTURED; EXONS; FEMALE; FIBROBLASTS; GENE EXPRESSION; GENE THERAPY; GENETIC LINKAGE; GENETIC VECTORS; HUMANS; LENTIVIRUS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PROTEIN BINDING; PROTEINS; RETINITIS PIGMENTOSA; RNA SPLICE SITES; RNA, SMALL NUCLEAR;

EID: 79959718365     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21509     Document Type: Article

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