A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome.

Yeşilkaya, Ediz

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