A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome. [electronic resource]
- Journal of tropical pediatrics Aug 2009
- 265-7 p. digital
Publication Type: Case Reports; Journal Article
1465-3664
10.1093/tropej/fmn060 doi
Anemia, Megaloblastic--diagnosis Child, Preschool Diabetes Mellitus--diagnosis Diagnosis, Differential Female Genotype Hearing Loss, Sensorineural--diagnosis Humans Membrane Transport Proteins--genetics Pedigree Point Mutation Syndrome Thiamine--therapeutic use Treatment Outcome Turkey Vitamin B Complex--therapeutic use