A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome-Reference-Cited by-同舟云学术

A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome

Published:2001-05 Issue:2 Volume:113 Page:508-513
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:

Author:

Gritli Sami,Omar Souheil,Tartaglini Elena,Guannouni Souha,Fleming Judith C.,Steinkamp Mara P.,Berul Charles I.,Hafsia Raouf,Jilani Sarrah Baltagi-Ben,Belhani Ali,Hamdi Mongi,Neufeld Ellis J.

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2141.2001.02774.x/fullpdf

Reference35 articles.

1. Diabetes mellitus, thiamine-dependent megaloblastic anaemia, and sensorineural deafness associated with deficient α-ketoglutarate dehydrogenase activity;Abboud;Journal of Pediatrics,1985

2. Thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness;Akinci;Acta Paediatrica Japonica,1993

3. Localization of the thiamine-responsive megaloblastic anaemia locus to a 1.4-cM region of 1q23;Banikazemi;Molecular Genetics and Metabolism,1999

4. Thiamine-responsive myelodysplasia;Bazarbachi;British Journal of Haematology,1998

5. Thiamine in excitable tissues: reflections on a non-cofactor role;Bettendorff;Metabolic Brain Disease,1994

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