Identification of a missense mutation causing exon skipping in a neurofibromatosis type 1 patient
Author:
Affiliation:
1. Jilin Medical University; Jilin China
2. National Engineering Laboratory for AIDS Vaccine; School of Life Sciences; Jilin University; Changchun China
Funder
National Science and Technology
Science and Technology Development of Jilin Province
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.14493/fullpdf
Reference9 articles.
1. Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site-directed mutagenesis;Gutmann;Oncogene,1993
2. Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1;Jaeger;Nat Genet,2012
3. Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders;Side;N Engl J Med,1997
4. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption;Wimmer;Hum Mutat,2007
5. Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations;Serra;Hum Genet,2001
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