Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia

Lignende værker

• Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility
  af: Haghighi, Amirreza, et al.
  Udgivet: (2013)
• Novel Mutation in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia: A Series of Three Cases
  af: Ghaemi, Nosrat, et al.
  Udgivet: (2013)
• Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1
  af: Haghighi, Amirreza, et al.
  Udgivet: (2012)
• Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine‐responsive megaloblastic anemia in an Egyptian family
  af: Amr, Khalda, et al.
  Udgivet: (2019)
• Cochlear implant and thiamine-responsive megaloblastic anemia syndrome
  af: Hagr, Abdulrahman Abdullah
  Udgivet: (2014)