De novo mutation in DMD gene in a patient with combined hemophilia A and Duchenne muscular dystrophy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
http://link.springer.com/content/pdf/10.1007/s12185-013-1488-4.pdf
Reference14 articles.
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2. Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, et al. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood. 1995;86:2206–12.
3. Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet. 1993;5:236–41.
4. del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, et al. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat. 2008;29:1100–7.
5. Oshima J, Magner DB, Lee JA, Breman AM, Schmitt ES, White LD, et al. Regional genomic instability predisposes to complex dystrophin gene rearrangements. Hum Genet. 2009;126:411–23.
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