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Digenic inheritance of an SMCHD1 mutation and an FSHD-permi..:
Lemmers, Richard J L F
;
Tawil, Rabi
;
Petek, Lisa M
...
Nature Genetics. 44 (2012) 12 - p. 1370-1374 , 2012
Link:
https://doi.org/10.1038/ng.2454
RT Journal T1
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_ng.2454&Exemplar=1&LAN=DE A1 Lemmers, Richard J L F A1 Tawil, Rabi A1 Petek, Lisa M A1 Balog, Judit A1 Block, Gregory J A1 Santen, Gijs W E A1 Amell, Amanda M A1 van der Vliet, Patrick J A1 Almomani, Rowida A1 Straasheijm, Kirsten R A1 Krom, Yvonne D A1 Klooster, Rinse A1 Sun, Yu A1 den Dunnen, Johan T A1 Helmer, Quinta A1 Donlin-Smith, Colleen M A1 Padberg, George W A1 van Engelen, Baziel G M A1 de Greef, Jessica C A1 Aartsma-Rus, Annemieke M A1 Frants, Rune R A1 de Visser, Marianne A1 Desnuelle, Claude A1 Sacconi, Sabrina A1 Filippova, Galina N A1 Bakker, Bert A1 Bamshad, Michael J A1 Tapscott, Stephen J A1 Miller, Daniel G A1 van der Maarel, Silvère M PB Springer Science and Business Media LLC YR 2012 SN 1061-4036 SN 1546-1718 JF Nature Genetics VO 44 IS 12 SP 1370 OP 1374 LK http://dx.doi.org/https://doi.org/10.1038/ng.2454 DO https://doi.org/10.1038/ng.2454 SF ELIB - SuUB Bremen
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