دورية أكاديمية
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
| العنوان: | Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 |
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| المؤلفون: | Lemmers, R.J.L.F., Tawil, R., Petek, L.M., Balog, J., Block, G.J., Santen, G.W.E., Amell, A.M., Vliet, P.J. van der, Almomani, R., Straasheijm, K.R., Krom, Y.D., Klooster, R., Sun, Y., Dunnen, J.T. den, Helmer, Q., Donlin-Smith, C.M., Padberg, G.W., Engelen, B.G.M. van, Greef, J.C. de, Aartsma-Rus, A.M., Frants, R.R., Visser, M. de, Desnuelle, C., Sacconi, S., Filippova, G.N., Bakker, B., Bamshad, M.J., Tapscott, S.J., Miller, D.G., Maarel, S.M. van der |
| المصدر: | Nature Genetics |
| سنة النشر: | 2012 |
| المجموعة: | Leiden Repository (Leiden University) |
| الوصف: | Genetics of disease, diagnosis and treatment |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | lumc-id: 3202212; https://hdl.handle.net/1887/97729Test |
| DOI: | 10.1038/ng.2454 |
| الإتاحة: | https://doi.org/10.1038/ng.2454Test https://hdl.handle.net/1887/97729Test |
| رقم الانضمام: | edsbas.996D1435 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/ng.2454 |
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