Effect of mutations in the PCSK9 gene on the cell surface LDL receptors

By Cameron Jamie   Holla Øystein L.   Ranheim Trine   Kulseth Mari Ann   Berge Knut Erik   Leren Trond P.  

Human Molecular Genetics, Vol. 15, Iss. 9, 2006-05 ,pp. : 1551-1558

Oxford University Press

Access to resources Recommend Favorite

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

By Monnier N.  

Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2581-2592

Oxford University Press

Access to resources Recommend Favorite

Missense Mutation in the Ligand-Binding Domain of the Horse Androgen Receptor Gene in a Thoroughbred Family with Inherited 64,XY (SRY+) Disorder of Sex Development

By  

Sexual Development, Vol. 10, Iss. 1, 2016-04 ,pp. : 37-44

Karger

Access to resources Recommend Favorite

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

By Müller C.R.  

Human Molecular Genetics, Vol. 10, Iss. 25, 2001-12 ,pp. : 2879-2887

Oxford University Press

Access to resources Recommend Favorite

Mutation –59c → t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia

By Scholtz Charlotte L.  

Human Molecular Genetics, Vol. 8, Iss. 11, 1999-10 ,pp. : 2025-2030

Oxford University Press

Access to resources Recommend Favorite