Human MutationVolume 11, Issue S1 p. S209-S212 Mutation in BriefFree Access 3′ acceptor splice site mutation in intron 50 leads to mild duchenne muscular dystrophy phenotype Kiriaki Kekou, Kiriaki Kekou Genetic Unit, 1st Department of Pediatrics, Athens University, “Aghia Sophia” Children's Hospital, Athens, GreeceSearch for more papers by this authorDr. Lina Florentin, Corresponding Author Dr. Lina Florentin Genetic Unit, 1st Department of Pediatrics, Athens University, “Aghia Sophia” Children's Hospital, Athens, GreeceGenetic Unit, 1st Department of Pediatrics of Athens University, “Aghia Sophia” Children's Hospital, Athens 115 27, GreeceSearch for more papers by this authorCatherine Metaxotou, Catherine Metaxotou Genetic Unit, 1st Department of Pediatrics, Athens University, “Aghia Sophia” Children's Hospital, Athens, GreeceSearch for more papers by this author Kiriaki Kekou, Kiriaki Kekou Genetic Unit, 1st Department of Pediatrics, Athens University, “Aghia Sophia” Children's Hospital, Athens, GreeceSearch for more papers by this authorDr. Lina Florentin, Corresponding Author Dr. Lina Florentin Genetic Unit, 1st Department of Pediatrics, Athens University, “Aghia Sophia” Children's Hospital, Athens, GreeceGenetic Unit, 1st Department of Pediatrics of Athens University, “Aghia Sophia” Children's Hospital, Athens 115 27, GreeceSearch for more papers by this authorCatherine Metaxotou, Catherine Metaxotou Genetic Unit, 1st Department of Pediatrics, Athens University, “Aghia Sophia” Children's Hospital, Athens, GreeceSearch for more papers by this author First published: 28 April 2011 https://doi.org/10.1002/humu.1380110168Citations: 2AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat References Abbs S, Yau SC, Clark S, Mathew CG, Bobrow M (1991) A convenient multiplex PCR system for the detection of dystrophin gene deletions: A comparative analysis with cDNA hybridization reveals mistyping by both methods. J Med Genet 28: 304– 311. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate phenol-chloroform extraction. Anal Biochem 162: 156– 159. Florentin L, Mavrou A, Kekou K, Metaxotou C (1995) Deletion patterns of Duchenne and Becker muscular dystrophies in Greece. J Med Genet 32:1:48–51. Green PM, Bentley DR, Mibashan RS, Nilsson IM, Gianneli I (1989) Molecular pathology of haemophilia B. EMBO 8: 1067– 1072. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509– 517. Koenig M, Kunkel LM (1990) Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J Biol Chem 265: 4560– 4566. Kneppers ALJ, Deutz-Terlouw PP, den Dunnen JT, van Ommen G-J, Bakker E (1995) Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis. Hum Mutat 5: 235– 242. Prior TW, Papp AC, Snyder PJ, Burghes AHM, Sedra MS, Western LM, Bartello C, Mendell JR (1993) Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation. Hum Mol Genet 2:3:311–313. Roberts RG, Bobrow M, Bentley DR (1992) Point mutations in the dystrophin gene. Proc Natl Acad Sci USA 89: 2331– 2335. Roberts RG, Gardner RJ, Bobrow M (1994) Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations. Hum Mutat 1: 1– 11. Roest P, Roberts R, Sugino S, van Ommen G-J, den Dunnen JT (1993) Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet 2:10:1719–1721. Sherratt T, Vulliamy T, Dubowitz V, Sewry C, Strong P (1993) Exon skipping and translation in patients with frameshift deletions in the dystrophin gene. Am J Hum Genet 53: 1007– 1015. Winnard A, Hsu Y, Gibbs R, Mendell J, Burghes A (1992) Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient. Hum Mol Genet 1: 645– 646. Citing Literature Volume11, IssueS1Supplement: Human Mutation1998Pages S209-S212 ReferencesRelatedInformation