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Autor:
Souheil Omar, Ali Belhani, Mongi Hamdi, Judith C. Fleming, Charles I. Berul, Ellis J. Neufeld, Mara P. Steinkamp, Raouf Hafsia, Elena Tartaglini, Sarrah Baltagi-Ben Jilani, Sami Gritli, Souha Guannouni
Publikováno v:
British Journal of Haematology. 113:508-513
Thiamine-responsive megaloblastic anaemia (TRMA) syndrome with diabetes and deafness was found in two patients from a Tunisian kindred. The proband was homozygous for a novel mutation, 287delG, in the high-affinity thiamine transporter gene, SLC19A2.