Literature citations
A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies.
Kohda M.; Tokuzawa Y.; Kishita Y.; Nyuzuki H.; Moriyama Y.; Mizuno Y.; Hirata T.; Yatsuka Y.; Yamashita-Sugahara Y.; Nakachi Y.; Kato H.; Okuda A.; Tamaru S.; Borna N.N.; Banshoya K.; Aigaki T.; Sato-Miyata Y.; Ohnuma K.; Suzuki T.; Nagao A.; Maehata H.; Matsuda F.; Higasa K.; Nagasaki M.; Yasuda J.; Yamamoto M.; Fushimi T.; Shimura M.; Kaiho-Ichimoto K.; Harashima H.; Yamazaki T.; Mori M.; Murayama K.; Ohtake A.; Okazaki Y.;
PLoS Genet. 12:E1005679-E1005679(2016)
Cited for: INVOLVEMENT IN COXPD40; VARIANTS COXPD40 GLU-117 AND VAL-133; CHARACTERIZATION OF VARIANTS COXPD40 GLU-117 AND VAL-133;
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Friederich M.W.; Timal S.; Powell C.A.; Dallabona C.; Kurolap A.; Palacios-Zambrano S.; Bratkovic D.; Derks T.G.J.; Bick D.; Bouman K.; Chatfield K.C.; Damouny-Naoum N.; Dishop M.K.; Falik-Zaccai T.C.; Fares F.; Fedida A.; Ferrero I.; Gallagher R.C.; Garesse R.; Gilberti M.; Gonzalez C.; Gowan K.; Habib C.; Halligan R.K.; Kalfon L.; Knight K.; Lefeber D.; Mamblona L.; Mandel H.; Mory A.; Ottoson J.; Paperna T.; Pruijn G.J.M.; Rebelo-Guiomar P.F.; Saada A.; Sainz B. Jr.; Salvemini H.; Schoots M.H.; Smeitink J.A.; Szukszto M.J.; Ter Horst H.J.; van den Brandt F.; van Spronsen F.J.; Veltman J.A.; Wartchow E.; Wintjes L.T.; Zohar Y.; Fernandez-Moreno M.A.; Baris H.N.; Donnini C.; Minczuk M.; Rodenburg R.J.; Van Hove J.L.K.;
Nat. Commun. 9:4065-4065(2018)
Cited for: VARIANTS COXPD40 VAL-133; 185-TYR--GLN-528 DEL; 196-THR--PRO-199 DELINS ASN-LYS-ASN-HIS AND LEU-427;
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