Associated Papers
Development of Engineered-U1 snRNA Therapies: Current Status.
Gonçalves M et al.
International Journal of Molecular Sciences, 2023
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Melloni G et al.
Cancers, 2019
Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene.
Cunha KS et al.
Genes, 2016
Low U1 snRNP dependence at the NF1 exon 29 donor splice site.
Raponi M et al.
The Febs Journal, 2009
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.
Bausch B et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
Mattocks C et al.
Journal of Medical Genetics, 2004
Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay.
Baralle M et al.
Journal of Medical Genetics, 2003
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