PMC Links for Nucleotide (Select 1008457681) - PMC

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Items: 3

Select item 70292361.

Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)

Yi Dai, Pidong Li, Zhiqiang Wang, Fan Liang, Fan Yang, Li Fang, Yu Huang, Shangzhi Huang, Jiapeng Zhou, Depeng Wang, Liying Cui, Kai Wang

J Med Genet. 2020 Feb; 57(2): 109–120. Published online 2019 Sep 10. doi: 10.1136/jmedgenet-2019-106078

PMCID:: PMC7029236

Abstract Article PDF–5.9M

Select item 58389762.

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

Richard JLF Lemmers, Patrick J van der Vliet, Judit Balog, Jelle J Goeman, Wibowo Arindrarto, Yvonne D Krom, Kirsten R Straasheijm, Rashmie D Debipersad, Gizem Özel, Janet Sowden, Lauren Snider, Karlien Mul, Sabrina Sacconi, Baziel van Engelen, Stephen J Tapscott, Rabi Tawil, Silvère M van der Maarel

Eur J Hum Genet. 2018 Jan; 26(1): 94–106. Published online 2017 Nov 21. doi: 10.1038/s41431-017-0015-0