Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions.

Ítems similars

• Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.
  per: Leitersdorf, E, et al.
  Publicat: (1989)
• Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.
  per: Hobbs, H H, et al.
  Publicat: (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.
  per: Leitersdorf, E, et al.
  Publicat: (1988)
• Novel mutations in one allele in a Chinese family with neurofibromatosis type 1: Including a complex insertion–deletion mutation
  per: Zhu, Lude, et al.
  Publicat: (2016)
• Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.
  per: Lehrman, M A, et al.
  Publicat: (1986)