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PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.
Taube, Jennifer R; Sperle, Karen; Banser, Linda; Seeman, Pavel; Cavan, Barbra Charina V; Garbern, James Y; Hobson, Grace M.
Affiliation
  • Taube JR; Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
  • Sperle K; Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
  • Banser L; Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
  • Seeman P; Department of Child Neurology, DNA Laboratory, 2nd School of Medicine, Charles University and University Hospital Motol, 150 06 Prague 5, Czech Republic.
  • Cavan BC; Department of Pediatrics, Cebu Institute of Medicine, 6000 Cebu City, Philippines.
  • Garbern JY; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA.
  • Hobson GM; Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA, Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA and Department of Pediatrics, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA ghobson@n
Hum Mol Genet ; 23(20): 5464-78, 2014 Oct 15.
Article in En | MEDLINE | ID: mdl-24890387
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA, Messenger / Introns / Alternative Splicing / Myelin Proteolipid Protein / Pelizaeus-Merzbacher Disease Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA, Messenger / Introns / Alternative Splicing / Myelin Proteolipid Protein / Pelizaeus-Merzbacher Disease Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: Country of publication: