Tomoko Lee Maiko Misaki Hideki Shimomura Yasuhiko Tanaka Satoru Yoshida Kei Murayama Kimitoshi Nakamura Ryoji Fujiki Osamu Ohara Hideo Sasai Toshiyuki Fukao Yasuhiro Takeshima
10.1038/s41439-018-0022-x
Hum Genome Var
2018 Aug 16;5:22.
CC BY
https://pubmed.ncbi.nlm.nih.gov/30131866/
Case Reports
PMC6095930
30131866
Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
2018