A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome. [electronic resource]
Producer: 20091104Description: 265-7 p. digitalISSN:- 1465-3664
- 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
No physical items for this record
Publication Type: Case Reports; Journal Article
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