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

Structural variation and single-nucleotide variation of the complement factor H (CFH) gene family underlie several complex genetic diseases, including age-related macular degeneration (AMD) and atypical hemolytic uremic syndrome (AHUS). To understand its diversity and evolution, we performed high-qu...

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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Proc Natl Acad Sci U S A
Main Authors: 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.
פורמט: Artigo
שפה:Inglês
יצא לאור: National Academy of Sciences 2018
נושאים:
PNAS Plus
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC5948961/
https://ncbi.nlm.nih.gov/pubmed/29686068
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1717600115
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