Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain

This publication has 91 references indexed in Scilit:

• Structural analysis of the GAP-related domain from neurofibromin and its implications
  The EMBO Journal, 1998
• Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene
  Human Genetics, 1998
• Nearby Stop Codons in Exons of the Neurofibromatosis Type 1 Gene Are Disparate Splice Effectors
  American Journal of Human Genetics, 1998
• Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion
  Human Mutation, 1997
• Reduced Neurofibromin Content but Normal Gap Activity in a Patient with Neurofibromatosis Type 1 Caused by a Five-Base-Pair Duplication in Exon 12B of the NF1 Gene
  Biochemical and Biophysical Research Communications, 1995
• Molecular etiology of factor VIII deficiency in hemophilia A
  Human Mutation, 1995
• Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules
  Somatic Cell and Molecular Genetics, 1993
• NF1-related locus on chromosome 15
  Genomics, 1992
• Identification and characterization of the gene for neurofibromatosis type 1
  Current Opinion in Genetics & Development, 1991
• Mutation in the Gene Encoding the Stimulatory G Protein of Adenylate Cyclase in Albright's Hereditary Osteodystrophy
  New England Journal of Medicine, 1990