Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma
影响 TGFBR1 外显子 5 差异剪接的不同变异会导致 Loeys-Dietz 综合征或多发性自愈性鳞状上皮瘤
期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/s41431-018-0127-1
Takayuki Fujiwara, Norifumi Takeda, Hironori Hara, Hiroyuki Morita, Jun Kishihara, Ryo Inuzuka, Hiroki Yagi, Sonoko Maemura, Haruhiro Toko, Mutsuo Harada, Yuichi Ikeda, Hidetoshi Kumagai, Seitaro Nomura, Eiki Takimoto, Hiroshi Akazawa, Junya Ako, Issei Komuro