1. Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2. Issue 11 (2nd September 2021) Authors: Kishita, Yoshihito; Shimura, Masaru; Kohda, Masakazu; Fushimi, Takuya; Nitta, Kazuhiro R.; Yatsuka, Yukiko; Hirose, Shinichi; Ideguchi, Hiroshi; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi Journal: Human mutation Issue: Volume 42:Issue 11(2021) Page Start: 1422 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Issue 4 (13th January 2018) Authors: El‐Hattab, Ayman W.; Wang, Julia; Dai, Hongzheng; Almannai, Mohammed; Staufner, Christian; Alfadhel, Majid; Gambello, Michael J.; Prasun, Pankaj; Raza, Saleem; Lyons, Hernando J.; Afqi, Manal; Saleh, Mohammed A. M.; Faqeih, Eissa A.; Alzaidan, Hamad I.; Alshenqiti, Abduljabbar; Flore, Leigh Anne;... Journal: Human mutation Issue: Volume 39:Issue 4(2018) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗