Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

Autor: Lindsay A. Farrer, Chi-Chao Chan, Lana M. Olson, Barbara E.K. Klein, Andrew J. Lotery, Jacqueline Ramke, Kyu Hyung Park, Yuri V. Sergeev, Felix Grassmann, John C. Merriam, Debra A. Schaumberg, Gonçalo R. Abecasis, Evangelia E. Tsironi, Anand Swaroop, Tammy M. Martin, Kari Branham, Naushin Waseem, Mohammad Othman, Donald J. Zack, Albert O. Edwards, Hendrik P. N. Scholl, Xiaowei Zhan, David Zipprer, Margaret A. Pericak-Vance, Harsha Rajasimha, Bingshan Li, José Sahel, Ronald Klein, Matthew P. Johnson, Michael B. Gorin, Thierry Léveillard, Denise J. Morgan, Stephanie A. Hagstrom, Mark Lathrop, Giuliana Silvestri, Ivana K. Kim, Robert N. Fariss, Barbara Truitt, Dwight Stambolian, James S. Friedman, Jonathan L. Haines, Arvydas Maminishkis, Yoichiro Kamatani, Robert P. Igo, Rinki Ratnapriya, Yvette P. Conley, Margaux A. Morrison, Rando Allikmets, Robert V. Baron, Jingsheng Tuo, Christina Chakarova, Bernhard H. F. Weber, Matthew Brooks, Gerald A. Fishman, Michael L. Klein, Shomi S. Bhattacharya, Joanna E. Merriam, Eric H Souied, Samuel G. Jacobson, Daniel E. Weeks, John R. Heckenlively, Emily Y. Chew, Neal S. Peachey, Margaret M. DeAngelis, Maria M Campos, Sudha K. Iyengar, Yingda Jiang

Publikováno v: Human molecular genetics, vol 23, iss 21

Neurodegenerative diseases affecting the macula constitute a major cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial late-onset age-related macular degener

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4e429a2040b8b7575ed0b3e9d1e48d2
https://doi.org/10.1093/hmg/ddu276