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

অনুরূপ উপাদানগুলি

• Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility
  অনুযায়ী: Haghighi, Amirreza, অন্যান্য
  প্রকাশিত: (2013)
• Novel Mutation in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia: A Series of Three Cases
  অনুযায়ী: Ghaemi, Nosrat, অন্যান্য
  প্রকাশিত: (2013)
• Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1
  অনুযায়ী: Haghighi, Amirreza, অন্যান্য
  প্রকাশিত: (2012)
• A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome
  অনুযায়ী: Işık Odaman-Al, অন্যান্য
  প্রকাশিত: (2019-04-01)
• THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA: Identification of novel compound heterozygotes and mutation update
  অনুযায়ী: Neuwirth, Anke K., অন্যান্য
  প্রকাশিত: (2009)