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http://purl.uniprot.org/citations/11258625http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11258625http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11258625http://www.w3.org/2000/01/rdf-schema#comment"

Purpose

To analyze the spectrum and frequency of NF1 mutations in exon 10b.

Methods

Mutation and sequence analysis was performed at the DNA and cDNA level.

Results

We identified nine exon 10b mutations in 232 unrelated patients. Some mutations were recurrent (Y489C and L508P), others were unique (1465-1466insC and IVS10b+2delTAAG). Surprisingly, at the RNA level, Y489C causes skipping of the last 62 nucleotides of exon 10b. Another recurrent mutation, L508P, is undetectable by the Protein Truncation Test.

Conclusion

As exon 10b shows the highest mutation rate yet found in any of the 60 NF1 exons, it should be implemented with priority in mutation analysis."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.org/dc/terms/identifier"doi:10.1097/00125817-199909000-00002"xsd:string
http://purl.uniprot.org/citations/11258625http://purl.org/dc/terms/identifier"doi:10.1097/00125817-199909000-00002"xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"De Paepe A."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"De Paepe A."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Abramowicz M."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Abramowicz M."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Pericak-Vance M.A."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Pericak-Vance M.A."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Vance J.M."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Vance J.M."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Mortier G.R."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Mortier G.R."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Messiaen L.M."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Messiaen L.M."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Wallace M.R."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Wallace M.R."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Roux K.J."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Roux K.J."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Callens T."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/author"Callens T."xsd:string
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/date"1999"xsd:gYear
http://purl.uniprot.org/citations/11258625http://purl.uniprot.org/core/date"1999"xsd:gYear
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