Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex

By Gonzalez-Santos Juana Maria   Cao Huibi   Duan Rongqi Cathleen   Hu Jim  

Human Molecular Genetics, Vol. 17, Iss. 2, 2008-01 ,pp. : 225-239

Oxford University Press

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Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy

By Bühler Dirk   Raker Veronica   Lührmann Reinhard   Fischer Utz  

Human Molecular Genetics, Vol. 8, Iss. 13, 1999-12 ,pp. : 2351-2357

Oxford University Press

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An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

By Fernandez Alanis Eugenio   Pinotti Mirko   Dal Mas Andrea   Balestra Dario   Cavallari Nicola   Rogalska Malgorzata E.   Bernardi Francesco   Pagani Franco  

Human Molecular Genetics, Vol. 21, Iss. 11, 2012-06 ,pp. : 2389-2398

Oxford University Press

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Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

By Ars Elisabet   Serra Eduard   García Judit   Kruyer Helena   Gaona Antonia   Lázaro Conxi   Estivill Xavier  

Human Molecular Genetics, Vol. 9, Iss. 2, 2000-01 ,pp. : 237-247

Oxford University Press

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Frameshift Mutation in the Survival Motor Neuron Gene in a Severe Case Of SMA Type I

By Brahe Christina   Clermont Olivier   Zappata Stefania   Tiziano Francesco   Melki Judith   Neri Giovanni  

Human Molecular Genetics, Vol. 5, Iss. 12, 1996-12 ,pp. : 1971-1976

Oxford University Press

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