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Anemia

Scientists at Harvard University target anemia

Published in Blood Weekly, May 13th, 2010

Researchers detail in 'Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update,' new data in anemia. "To determine causative mutations and clinical status of 7 previously unreported kindreds with TRMA syndrome, (thiamine-responsive megaloblastic anemia, online Mendelian inheritance in man, no. 249270), a recessive disorder of thiamine transporter Slc19A2. Genomic DNA was purified from blood, and SLC19A2 mutations were characterized by sequencing polymerase chain reaction-amplified coding regions and intron-exon boundaries of all probands," scientists writing in the Journal of Pediatrics report.

"Compound...

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