Rare mutations associating with serum creatinine and chronic kidney disease

Gardar Sveinbjornsson,Evgenia Mikaelsdottir,Runolfur Palsson,Olafur S. Indridason,Hilma Holm,Aslaug Jonasdottir,Agnar Helgason,Snaevar Sigurdsson,Adalbjorg Jonasdottir,Asgeir Sigurdsson,Gudmundur I. Eyjolfsson,Olof Sigurdardottir,Olafur Th. Magnusson,Augustine Kong,Gisli Masson,Patrick Sulem,Isleifur Olafsson,Unnur Thorsteinsdottir,Daniel F. Gudbjartsson,Kari Stefansson

Rare mutations associating with serum creatinine and chronic kidney disease

2014

Gardar Sveinbjornsson1, Evgenia Mikaelsdottir1, Runolfur Palsson2,5, Olafur S. Indridason5, Hilma Holm7, Aslaug Jonasdottir1, Agnar Helgason1,3, Snaevar Sigurdsson1, Adalbjorg Jonasdottir1, Asgeir Sigurdsson1, Gudmundur Ingi Eyjolfsson8, Olof Sigurdardottir9, Olafur Th. Magnusson1, Augustine Kong1,4, Gisli Masson1, Patrick Sulem1, Isleifur Olafsson6, Unnur Thorsteinsdottir1,2, Daniel F. Gudbjartsson1,4,∗ and Kari Stefansson1,2,∗

Keywords:

Renal function
Creatinine
Genetics
Allele frequency
Genome
Kidney disease
Single-nucleotide polymorphism
Mutation
Biology
Hartnup disease
Minor allele frequency
SLC47A1

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