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Title : Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia - Stitziel_2013_Arterioscler.Thromb.Vasc.Biol_33_2909 |
Author(s) : Stitziel NO , Fouchier SW , Sjouke B , Peloso GM , Moscoso AM , Auer PL , Goel A , Gigante B , Barnes TA , Melander O , Orho-Melander M , Duga S , Sivapalaratnam S , Nikpay M , Martinelli N , Girelli D , Jackson RD , Kooperberg C , Lange LA , Ardissino D , McPherson R , Farrall M , Watkins H , Reilly MP , Rader DJ , de Faire U , Schunkert H , Erdmann J , Samani NJ , Charnas L , Altshuler D , Gabriel S , Kastelein JJ , Defesche JC , Nederveen AJ , Kathiresan S , Hovingh GK |
Ref : Arterioscler Thromb Vasc Biol , 33 :2909 , 2013 |
Abstract : Stitziel_2013_Arterioscler.Thromb.Vasc.Biol_33_2909 |
ESTHER : Stitziel_2013_Arterioscler.Thromb.Vasc.Biol_33_2909 |
PubMedSearch : Stitziel_2013_Arterioscler.Thromb.Vasc.Biol_33_2909 |
PubMedID: 24072694 |
Title : Characterization of single-nucleotide polymorphisms in coding regions of human genes - Cargill_1999_Nat.Genet_22_231 |
Author(s) : Cargill M , Altshuler D , Ireland J , Sklar P , Ardlie K , Patil N , Shaw N , Lane CR , Lim EP , Kalyanaraman N , Nemesh J , Ziaugra L , Friedland L , Rolfe A , Warrington J , Lipshutz R , Daley GQ , Lander ES |
Ref : Nat Genet , 22 :231 , 1999 |
Abstract : Cargill_1999_Nat.Genet_22_231 |
ESTHER : Cargill_1999_Nat.Genet_22_231 |
PubMedSearch : Cargill_1999_Nat.Genet_22_231 |
PubMedID: 10391209 |
Gene_locus related to this paper: human-LIPC |