Publication

Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH, Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science292(5520):1394-8 2001
PubMed ID: 11326085

Records Return:  (5) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM00696Female5 MO263sisterHYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
GM00694Female15 YR263sisterHYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
GM00695Male55 YR263fatherHYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
GM00697Male17 YR263brotherHYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
GM00667Male12 YR263probandHYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH