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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

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Description scientific article (publication date: 11 November 2012)
Author/s

author: Johan T Den Dunnen  Marianne de Visser  Yvonne D Krom  Patrick J van der Vliet  Kirsten R Straasheijm  Rinse Klooster  Rune Frants  Jessica C de Greef  Sabrina Sacconi  Richard J L F Lemmers  Quinta Helmer  Judit Balog  Silvère M van der Maarel  Stephen J Tapscott  Baziel van Engelen  George W. Padberg  Rabi Tawil  Daniel G. Miller  Yu Sun  Bert Bakker 

Publication date November 11, 2012
Language English
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