Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness-Reference-Cited by-同舟云学术

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

Published:1999-07 Issue:3 Volume:22 Page:300-304
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Labay Valentina,Raz Tal,Baron Dana,Mandel Hanna,Williams Hawys,Barrett Timothy,Szargel Raymonde,McDonald Louise,Shalata Adel,Nosaka Kazuto,Gregory Simon,Cohen Nadine

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0799_300.pdf

Reference17 articles.

1. Rogers, L.E., Porter, F.S. & Sidbury, J.B. Jr Thiamine-responsive megaloblastic anemia. J. Pediatr. 74, 494– 504 (1969).

2. 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).

3. Neufeld, E.J. et al. Localization of the gene for thiamine-responsive megaloblastic anemia syndrome on the long arm of chromosome 1 by homozygosity mapping. Am. J. Hum. Genet. 61, 1335–1341 (1997).

4. Raz, T. et al. Refine mapping of the gene for thiamine-responsive megaloblastic anemia syndrome in a 4cM region and evidence for genetic homogeneity. Hum. Genet. 103, 455–461 (1998).

5. Banikazemi, M. et al. Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. Mol. Genet. Metab. 66, 193–198 (1999).

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