Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family With Thiamine-Responsive Megaloblastic Anemia
Importance of Immediate Thiamine Therapy in Children With Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation
Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes
Thiamine Responsive Megaloblastic Anemia Syndrome: A Novel Homozygous SLC19A2 Gene Mutation Identified
Novel Mutation in the SLC19A2 Gene in an African-American Female With Thiamine-Responsive Megaloblastic Anemia Syndrome
A Novel Mutation in the SLC19A2 Gene in a Turkish Female With Thiamine-Responsive Megaloblastic Anemia Syndrome.
A Novel Mutation in the SLC19A2 Gene in a Tunisian Family With Thiamine-Responsive Megaloblastic Anaemia, Diabetes and Deafness Syndrome