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Volumn 27, Issue 3, 2006, Pages 294-295
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Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization.
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Author keywords
[No Author keywords available]
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Indexed keywords
ARTICLE;
ARTIFICIAL NEURAL NETWORK;
CASE REPORT;
EXON;
GENETIC PROCEDURES;
GENETICS;
HUMAN;
INTRON;
MALE;
MOLECULAR GENETICS;
MUTATION;
NEUROFIBROMATOSIS;
NUCLEOTIDE SEQUENCE;
RNA SPLICING;
SEQUENCE HOMOLOGY;
TUMOR SUPPRESSOR GENE;
BASE SEQUENCE;
EXONS;
GENES, NEUROFIBROMATOSIS 1;
GENETIC TECHNIQUES;
HUMANS;
INTRONS;
MALE;
MOLECULAR SEQUENCE DATA;
MUTATION;
NEURAL NETWORKS (COMPUTER);
NEUROFIBROMATOSIS 1;
RNA SPLICING;
SEQUENCE HOMOLOGY, NUCLEIC ACID;
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EID: 33746602741
PISSN: None
EISSN: 10981004
Source Type: Journal
DOI: 10.1002/humu.9412 Document Type: Article |
Times cited : (34)
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References (0)
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