Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng0799_309.pdf
Reference19 articles.
1. Rogers, L.E., Porter, F.S. & Sidbury, J.B.J. Thiamine-responsive megaloblastic anemia. J. Pediatr. 74, 494–504 (1969).
2. Viana, M.B. & Carvalho, R.I. Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: a new syndrome? J. Pediatr. 93, 235–238 (1978).
3. Mandel, H., Berant, M., Hazani, A. & Naveh, Y. Thiamine-dependent beriberi in the "thiamine-responsive anemia syndrome". N. Engl. J. Med. 311, 836–838 ( 1984).
4. Rindi, G. et al. Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia. J. Inherit. Metab. Dis. 17, 667–677 (1994).
5. Rindi, G. et al. Thiamine transport in erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia. J. Inherit. Metab. Dis. 15, 231–242 (1992).
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