Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update-Reference-Cited by-同舟云学术

Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update

Published:2009-12 Issue:6 Volume:155 Page:888-892.e1
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Bergmann Anke K.,Sahai Inderneel,Falcone Jill F.,Fleming Judy,Bagg Adam,Borgna-Pignati Caterina,Casey Robin,Fabris Luca,Hexner Elizabeth,Mathews Lulu,Ribeiro Maria Leticia,Wierenga Klaas J.,Neufeld Ellis J.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference31 articles.

1. Thiamine-responsive megaloblastic anemia;Rogers;J Pediatr,1969

2. Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping;Neufeld;Am J Hum Genet,1997

3. The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter;Fleming;Nat Genet,1999

4. The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families;Raz;Hum Mutat,2000

5. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein;Strom;Hum Mol Genet,1998

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