Associated Papers
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.
Zhang YH et al.
Pediatric Research, 2006
Molecular characterization of two novel mutations causing factor X deficiency in a Chinese pedigree.
Wang WB et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2005
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.
Hellerud C et al.
Molecular Genetics and Metabolism, 2003
[Two novel factor V gene mutations associated with congenital coagulation factor V deficiency, study of one pedigree].
Fu QH et al.
Zhonghua Yi Xue Za Zhi, 2003
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