Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

Human Mutation

Volumn 15, Issue 6, 2000, Pages 541-555

  Messiaen, Ludwine ^a   Callens, Tom ^a   Mortier, Geert ^a   Beysen, Diane ^a   Vandenbroucke, Ina ^a   Van Roy, Nadine ^a   Speleman, Frank ^a   De Paepe, Anne ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Mutational spectrum; Neurofibromatosis type 1; NF1; Splicing errors

Indexed keywords

DNA; HETERODUPLEX; NEUROFIBROMIN; PUROMYCIN; RNA;

ARTICLE; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DELETION MUTANT; DNA SEQUENCE; ENVIRONMENTAL FACTOR; EPSTEIN BARR VIRUS; FAMILIAL DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEUROFIBROMATOSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SOUTHERN BLOTTING; TUMOR SUPPRESSOR GENE;

ALTERNATIVE SPLICING; BLOTTING, SOUTHERN; CODON; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; ENVIRONMENTAL EXPOSURE; EXONS; FRAMESHIFT MUTATION; GENES, NEUROFIBROMATOSIS 1; HETERODUPLEX ANALYSIS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTRONS; MUTATION; MUTATION, MISSENSE; NEUROFIBROMATOSIS 1; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; TRANSLOCATION, GENETIC;

HUMAN HERPESVIRUS 4;

EID: 0034081412     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N     Document Type: Article

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