Analyzing Copy Number Variation Using Pulsed-Field Gel Electrophoresis: Providing a Genetic Diagnosis for FSHD1
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Publisher
Springer New York
Link
http://link.springer.com/content/pdf/10.1007/978-1-4939-6442-0_7
Reference27 articles.
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3. Dixit M, Ansseau E, Tassin A et al (2007) DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A 104:18157–18162
4. Lemmers RJLF, van der Vliet PJ, Klooster R et al (2010) A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 329:1650–1653
5. Lunt PW, Jardine PE, Koch MC et al (1995) Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35- facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 4:951–958
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