Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

Documenti analoghi

• Association Between Nuclear Lamin A/C R482Q Mutation and Partial Lipodystrophy with Hyperinsulinemia, Dyslipidemia, Hypertension, and Diabetes
  di: Hegele, Robert A., et al.
  Pubblicazione: (2000)
• Sequencing of the Reannotated LMNB2 Gene Reveals Novel Mutations in Patients with Acquired Partial Lipodystrophy
  di: Hegele, Robert A., et al.
  Pubblicazione: (2006)
• Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation
  di: Hegele, Robert A., et al.
  Pubblicazione: (2007)
• SUN-593 Variants in Known Monogenic Causal Genes of Hypertriglyceridemia Are Not Major Contributors for Hypertriglyceridemia in Lipodystrophy Due to a LMNA Mutation
  di: Ueda, Masako, et al.
  Pubblicazione: (2020)
• Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)
  di: Francis, Gordon A, et al.
  Pubblicazione: (2006)