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Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family
Cantsilieris, Stuart, Nelson, Bradley J., Huddleston, John, Baker, Carl, Harshman, Lana, Penewit, Kelsi, Munson, Katherine M.
, Sorensen, Melanie
, Welch, AnneMarie E., Dang, Vy, Grassmann, Felix
, Richardson, Andrea J., Guymer, Robyn H.
, Graves-Lindsay, Tina A., Wilson, Richard K., Weber, Bernhard H. F., Baird, Paul N., Allikmets, Rando and Eichler, Evan E.
(2018)
Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.
Proceedings of the National Academy of Sciences 115 (19), E4433-E4442.
Date of publication of this fulltext: 28 Jul 2021 17:18
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| Item type | Article | ||||
| Journal or Publication Title | Proceedings of the National Academy of Sciences | ||||
| Publisher: | NATL ACAD SCIENCES | ||||
|---|---|---|---|---|---|
| Place of Publication: | WASHINGTON | ||||
| Volume: | 115 | ||||
| Number of Issue or Book Chapter: | 19 | ||||
| Page Range: | E4433-E4442 | ||||
| Date | 2018 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
| ||||
| Keywords | HEMOLYTIC-UREMIC SYNDROME; MACULAR DEGENERATION; RARE VARIANTS; EVOLUTIONARY INSTABILITY; EARLY-ONSET; MUTATIONS; PROTEINS; DELETION; SUSCEPTIBILITY; ACTIVATION; structural variation; CFH gene family; natural selection; age-related macular degeneration; AMD | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 47196 |
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