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Common pathological mutations in PQBP1 induce nonsense‐mediated mRNA decay and enhance exclusion of the mutant exon
Authors:Luciana Musante  Stella‐Amrei Kunde  Tina O. Sulistio  Ute Fischer  Astrid Grimme  Suzanna G.M. Frints  Charles E. Schwartz  Francisco Martínez  Corrado Romano  Hans‐Hilger Ropers  Vera M. Kalscheuer
Affiliation:1. Max‐Planck‐Institute for Molecular Genetics, Berlin, Germany;2. Department of Clinical Genetics, University Hospital azM Maastricht, Maastricht, The Netherlands;3. Institute for Growth and Development, GROW, Maastricht University, Maastricht, The Netherlands;4. JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina;5. Unidad de Genética, Hospital Universitario La Fe, Valencia, Spain;6. Unità Operativa Complessa di Pediatria e Genetica Medica, IRCCS Associazione Oasi Maria Santissima, Troina (Enna), Italy
Abstract:
Keywords:XLMR  PQBP1  splicing  PTC  NMD  NAS
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