An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

作者：Hung‐Chun Yu, Jennifer L. Sloan, Gunter Scharer, Alison Brebner, Anita M. Quintana, Nathan P. Achilly, Irini Manoli, Curtis R. Coughlin, Elizabeth A. Geiger, Una Schneck, David Watkins, Terttu Suormala, Johan L.K. Van Hove, Brian Fowler, Matthias R. Baumgartner, David S. Rosenblatt, Charles P. Venditti, Tamim H. Shaikh · 发表于：The American Journal of Human Genetics · 年份：2013 · DOI：10.1016/j.ajhg.2013.07.022 · 被引用次数：134 · 研究领域：Folate and B Vitamins Research、Metabolism and Genetic Disorders、Porphyrin Metabolism and Disorders