Leiden University Scholarly Publications

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Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2

Lemmers, R.J.L.F.; Vliet, P.J. van der; Balog, J.; Goeman, J.J.; Arindrarto, W.; Krom, Y.D.; ... ; Maarel, S.M. van der (2018)

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2

Article / Letter to editor

All authors: Lemmers, R.J.L.F.; Vliet, P.J. van der; Balog, J.; Goeman, J.J.; Arindrarto, W.; Krom, Y.D.; Straasheijm, K.R.; Debipersad, R.D.; Ozel, G.; Sowden, J.; Snider, L.; Mul, K.; Sacconi, S.; Engelen, B. van; Tapscott, S.J.; Tawil, R.; Maarel, S.M. van der

Date: 2018-01-31

Journal: European Journal of Human Genetics

Volume: 26

Issue: 1

Pages: 94 - 106

DOI: doi:10.1038/s41431-017-0015-0

Link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838976/