Species-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness

International Journal of Molecular Sciences

Volumn 16, Issue 3, 2015, Pages 5285-5298

  Garanto, Alejandro ^a,b   Duijkers, Lonneke ^a   Collin, Rob W J ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

CEP290; Deep intronic mutation; Leber congenital amaurosis; Pre mRNA splicing

Indexed keywords

ANIMAL CELL; ARTICLE; CEP290 GENE; CONTROLLED STUDY; EXON; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; LEBER CONGENITAL AMAUROSIS; MOUSE; NONHUMAN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ALIGNMENT; SITE DIRECTED MUTAGENESIS; ANIMAL; CELL LINE; DOG; DROSOPHILA; GENETICS; HEK293 CELL LINE; INTRON; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; SPECIES DIFFERENCE;

ANIMALIA; CANIS FAMILIARIS; PRIMATES; RODENTIA;

CEP290 PROTEIN, MOUSE; NUCLEAR PROTEIN;

ANIMALS; BASE SEQUENCE; CELL LINE; DOGS; DROSOPHILA; EXONS; HEK293 CELLS; HUMANS; INTRONS; LEBER CONGENITAL AMAUROSIS; MICE; MUTATION; NUCLEAR PROTEINS; RNA SPLICING; SPECIES SPECIFICITY;

EID: 84925861558     PISSN: 16616596     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms16035285     Document Type: Article

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