A novel missense mutation c.470 A>C (p.D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinaemia.

Documenti analoghi

• Transmembrane protein western blotting: Impact of sample preparation on detection of SLC11A2 (DMT1) and SLC40A1 (ferroportin).
  di: Yoshiaki Tsuji
  Pubblicazione: (2020-01-01)
• Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family
  di: Wei Zhai, et al.
  Pubblicazione: (2015-08-01)
• Role of liver magnetic resonance imaging in hyperferritinaemia and the diagnosis of iron overload
  di: Axel Rüfer, et al.
  Pubblicazione: (2017-11-01)
• PO.2.51 Hyperferritinaemia and systemic disease : SLE or still’s disease?
  di: N Bouziani, et al.
  Pubblicazione: (2022-10-01)
• Duodenal ferroportin is up-regulated in patients with chronic hepatitis C.
  di: Lanqing Ma, et al.
  Pubblicazione: (2014-01-01)