NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient

Human Genetics

Volumn 113, Issue 6, 2003, Pages 551-554

  Colapietro, Patrizia ^a   Gervasini, Cristina ^a   Natacci, Federica ^b   Rossi, Livia ^c   Riva, Paola ^a   Larizza, Lidia ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b Medical Genetics Unit   (Italy)

^c Pediatric Department   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ALTERNATE SPLICING FACTOR; AMINO ACID; ARGININE; CYTOSINE; GUANINE; NUCLEOTIDE; PROTEIN; SERINE; SPLICING FACTOR 2; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CONSENSUS SEQUENCE; CONTROLLED STUDY; DISEASE SEVERITY; ENHANCER REGION; EXON; GENE EXPRESSION; GENE LOCATION; GENE SEQUENCE; GENETIC CODE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOMIC FRAGMENT; HUMAN; MALE; MISSENSE MUTATION; NEUROFIBROMATOSIS; NUCLEIC ACID BASE SUBSTITUTION; PREDICTION; PRIORITY JOURNAL; PROTEIN MOTIF; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SILENT GENE;

ALTERNATIVE SPLICING; ANIMALS; CHILD; CHILD, PRESCHOOL; HUMANS; INFANT; MALE; MICE; MUTATION; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA PROCESSING, POST-TRANSCRIPTIONAL;

EID: 0242438530     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-1009-2     Document Type: Article

References (14)

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