| 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 |