NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33525/fullpdf
Reference19 articles.
1. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients;Ars;J Med Genet,2003
2. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype;Brems;Nat Genet,2007
3. Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1;Consoli;J Invest Dermatol,2005
4. Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1, 728 patients;Friedman;Am J Med Genet,1997
5. High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene;Kehrer-Sawatzki;Am J Hum Genet,2004
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