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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 ; Eichler, Evan E.

Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family

Article

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.



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Details

Item typeArticle
Journal or Publication TitleProceedings of the National Academy of Sciences
PublisherNATL ACAD SCIENCES
Place of PublicationWASHINGTON
Volume115
Number of Issue or Book Chapter19
Page RangeE4433-E4442
Date2018
Date of publication28 Jul 2021 17:18
InstitutionsMedicine > Lehrstuhl für Humangenetik
Identification Number
ValueType
10.1073/pnas.1717600115DOI
KeywordsHEMOLYTIC-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 Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
Item ID47196

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