Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene

By Aznarez I.  

Human Molecular Genetics, Vol. 12, Iss. 16, 2003-08 ,pp. : 2031-2040

Oxford University Press

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Functional analysis of cis -acting elements regulating the alternative splicing of human CFTR exon 9

By Niksic Martina   Romano Maurizio   Buratti Emanuele   Pagani Franco   Baralle Francisco E.  

Human Molecular Genetics, Vol. 8, Iss. 13, 1999-12 ,pp. : 2339-2349

Oxford University Press

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Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations

By Nissim-Rafinia Malka   Chiba-Falek Ornit   Sharon Gil   Boss Amarel   Kerem Batsheva  

Human Molecular Genetics, Vol. 9, Iss. 12, 2000-07 ,pp. : 1771-1778

Oxford University Press

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Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations

By Benayoun Brnice A.   Batista Frank   Auer Jana   Dipietromaria Aurlie   L'Hte David   De Baere Elfride   Veitia Reiner A.  

Human Molecular Genetics, Vol. 18, Iss. 4, 2009-02 ,pp. : 632-644

Oxford University Press

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Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays

By Nagao Kazuaki  

Human Molecular Genetics, Vol. 14, Iss. 22, 2005-11 ,pp. : 3379-3388

Oxford University Press

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