Exhaustive mutation analysis of theNF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference44 articles.
1. Two NF1 mutations: Frameshift in the GAP-related domain, and loss of two codons toward the 3′ end of the gene
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3. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
4. Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17
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