Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing
父亲向后代传递极长的 NOTCH2NLC 重复扩增和收缩:利用长读测序进行遗传和表观遗传分析
期刊:Clinical Epigenetics
影响因子:
doi:10.1186/s13148-021-01192-5
Hiromi Fukuda, Daisuke Yamaguchi, Kristofor Nyquist, Yasushi Yabuki, Satoko Miyatake, Yuri Uchiyama, Kohei Hamanaka, Ken Saida, Eriko Koshimizu, Naomi Tsuchida, Atsushi Fujita, Satomi Mitsuhashi, Kazuyuki Ohbo, Yuki Satake, Jun Sone, Hiroshi Doi, Keisuke Morihara, Tomoko Okamoto, Yuji Takahashi, Aar