Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH).

Gelijkaardige items

• The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.
  door: Koivisto, U M, et al.
  Gepubliceerd in: (1992)
• A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia).
  door: Bertolini, S, et al.
  Gepubliceerd in: (1992)
• Cascade Screening for Familial Hypercholesterolemia (FH)
  door: Ned, Renée M., et al.
  Gepubliceerd in: (2011)
• Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.
  door: Leitersdorf, E, et al.
  Gepubliceerd in: (1989)
• 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.
  door: Leitersdorf, E, et al.
  Gepubliceerd in: (1988)