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Inheritance of Two Benign Genetic Variants Causes a Muscular Dystrophy

Arnegard, Matthew (2012) Inheritance of Two Benign Genetic Variants Causes a Muscular Dystrophy. Science Spotlight, 2 (11).

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Article URL: http://www.nature.com/ng/journal/v44/n12/abs/ng.24...
Item Type: Article
Additional Information: Lemmers RJLF, Tawil R, Petek LM, Balog J, Block GJ, Santen GWE, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BGM, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM. 2012. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nature Genetics, advanced online publication, released on 11 November 2012, doi:10.1038/ng.2454. Also see: Geng LN, Yao Z, Snider L, Fong AP, Cech JN, Young JM, van der Maarel SM, Ruzzo WL, Gentleman RC, Tawil R, Tapscott SJ. 2012. DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Developmental Cell 22:38-51. Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. 2010. A unifying genetic model for fascioscapulohumeral muscular dystrophy. Science 329:1650-1653. Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG. 2010. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genetics 6:e1001181.
Collections: Science Spotlight
Depositing User: Ben Abraham
Date Deposited: 20 Mar 2015 19:46
Last Modified: 20 Mar 2015 19:46
URI: http://authors.fhcrc.org/id/eprint/886

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