Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia.

Eitemau Tebyg

• Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.
  gan: Leitersdorf, E, et al.
  Cyhoeddwyd: (1989)
• Deletion of two growth-factor repeats from the low-density-lipoprotein receptor accelerates its degradation.
  gan: van der Westhuyzen, D R, et al.
  Cyhoeddwyd: (1991)
• Three-dimensional structure of a cysteine-rich repeat from the low-density lipoprotein receptor.
  gan: Daly, N L, et al.
  Cyhoeddwyd: (1995)
• Low-density-lipoprotein receptors in human fibroblasts are not degraded in lysosomes.
  gan: Casciola, L A, et al.
  Cyhoeddwyd: (1989)
• Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.
  gan: Hobbs, H H, et al.
  Cyhoeddwyd: (1989)