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• W4240676631 abstract "Human MutationVolume 7, Issue 1 p. 72-75 Mutations in Brief Nonsense mutations in a Becker muscular dystrophy and an intermediate patient Thomas W. Prior, Corresponding Author Thomas W. Prior Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210; Fax: 614-292-7072Search for more papers by this authorClaire Bartolo, Claire Bartolo Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210Search for more papers by this authorAudrey C. Papp, Audrey C. Papp Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210Search for more papers by this authorPamela J. Snyder, Pamela J. Snyder Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210Search for more papers by this authorMary S. Sedra, Mary S. Sedra Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210Search for more papers by this authorArthur H.M. Burghes, Arthur H.M. Burghes Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210Search for more papers by this authorJerry R. Mendell, Jerry R. Mendell Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210Search for more papers by this author Thomas W. Prior, Corresponding Author Thomas W. Prior Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210; Fax: 614-292-7072Search for more papers by this authorClaire Bartolo, Claire Bartolo Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210Search for more papers by this authorAudrey C. Papp, Audrey C. Papp Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210Search for more papers by this authorPamela J. Snyder, Pamela J. Snyder Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210Search for more papers by this authorMary S. Sedra, Mary S. Sedra Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210Search for more papers by this authorArthur H.M. Burghes, Arthur H.M. Burghes Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210Search for more papers by this authorJerry R. Mendell, Jerry R. Mendell Department of Pathology, Department of Molecular Genetics, and Department of Neurology, The Ohio State University, Columbus, Ohio 43210Search for more papers by this author First published: 1996 https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<72::AID-HUMU13>3.0.CO;2-PCitations: 7AboutPDF 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 References Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16: 11141– 11156. Chelly J, Gilgenkrantz H, Lambert M, Hamard G, Chafey P, Recan D, Katz P, de la Chapelle A, Koenig M, Ginjaar B, Fardeau M, Tome F, Kahn A, Kaplan JC (1990) Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell 63: 1239– 1248. Hagiwara Y, Nishio H, Kitoh Y, Takeshima Y, Narita N, Wada H, Okoyama M, Nakamura H, Matsuo M (1994) A novel point mutation (G-1 to T) in a 5′ splice donor site of intron 13 of the dystrophin gene result in exon skipping and is responsible for Becker muscular dystrophy. Am J Hum Genet. 54: 53– 61. Kingsmore SF, Giros B, Suh D, Bieniarz M, Caron MG, Seldin F (1994) Glycine receptor B-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nature Genet 7: 136– 141. Lebo RV, Olney RK, Golbus MS (1990) Somatic mosaicism at the uchenne locus. Am J Med Genet 37: 187– 190. Malhotra SB, Hart KA, Klamut HJ, Thomas NST, Bodrug SE, Burghes, AHM, Bobrow M, Harper PS, Thompson MW, Ray PN, Worton RG (1988) Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science 242: 755– 759. Markiewicz S, Subtil A, Dautry-Varsat A, Fischer A, de Saint Basile G (1994) Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor chain gene in SCIDX1 that differently affect the mRNA processing. Genomics 21: 291– 293. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM (1988) An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2: 90– 95. Narita N, Nishio H, Kitoh Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M (1993) Insertion of a 5′ truncated L1 element into the 3′ end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. J Clin Invest 91: 1862– 1867. Roberts RG, Passos-Bueno MR, Bobrow M, Vainzof M, Zatz M (1993) Point mutation in a Becker muscular dystrophy patient. Hum Mol Genet 2: 75– 77. Sherratt TG, Vulliamy T, Dubowitz V, Sewry CA, Strong PN (1993) Exon skipping and translation in patients with frameshift deletions in the dystrophin gene. Am J. Hum Genet 53: 1007– 1015. Citing Literature Volume7, Issue11996Pages 72-75 ReferencesRelatedInformation" @default.
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• W4240676631 title "Nonsense mutations in a Becker muscular dystrophy and an intermediate patient" @default.
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