Publication
Title
Exon 10b of the **NF1** gene represented a mutational hotspot and harbors a recurrent missense mutation y489c associated with aberrant splicing
Author
Abstract
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 mitations in 232 unrelated patients. Some mutations were recurrent (Y488C and L508P), other were unique (14651466insC and ivs10b + 2deITAAG). Surprisingly, at the RNA level, Y489c cause skipping of the last 62 nucleotides of exon 10b. another recurrent mutation, L508P, is undetectable by the Protein Truncation Test. Conclusion: As exon 10b show the highest mutation rate yet found in any of the 60 NF1 exon, it should be implemented with priorityin mutation analysis.
Language
English
Source (journal)
Genetics in medicine. - Philadelphia, Pa.
Publication
Philadelphia, Pa. : 1998
ISSN
1098-3600
1530-0366
Volume/pages
1:6(1998), p. 248-253
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Publication type
Subject
External links
Record
Identification
Creation 06.06.2012
Last edited 02.09.2016