No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction
Dorota Piekutowska‐Abramczuk(Children's Memorial Health Institute), Ewa Pronicka(Children's Memorial Health Institute), Paweł Kowalski(Children's Memorial Health Institute), Rafał Płoski(Medical University of Warsaw), Beata Kocyła-Karczmarewicz(Children's Memorial Health Institute), S. Brandon Luczak(Children's Memorial Health Institute), Quan V. Hoang(Singapore National Eye Center), Katarzyna Iwanicka‐Pronicka(Children's Memorial Health Institute), Quan Wen(First Affiliated Hospital of Jiangxi Medical College), Stephanie Siegmund(Brigham and Women's Hospital), Janusz Zimowski(Institute of Psychiatry and Neurology), Elżbieta Ciara(Children's Memorial Health Institute), Maja Małkowska(Children's Memorial Health Institute), Jacek Pilch(Medical University of Silesia), Ronald H. Silverman(Columbia University Irving Medical Center), Jacek Zaremba(Institute of Psychiatry and Neurology), Olga Szczypińska(Children's Memorial Health Institute), Hua Yang(University of Hawaiʻi at Mānoa), Małgorzata Krajewska‐Walasek(Children's Memorial Health Institute), Eric A. Schon(Columbia University Irving Medical Center), Kamila Czornak(Children's Memorial Health Institute)
Cited by 8
Related Papers
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets
|Nature Genetics|1995|1.1k
Human mitochondrial DNA: roles of inherited and somatic mutations
|Nature Reviews Genetics|2012|747
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
|Nature Reviews Endocrinology|2018|596
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
|Nature Genetics|1999|571
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
|The American Journal of Human Genetics|2005|562