HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.

  title={HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.},
  author={Belinda Giardine and Sjozef van Baal and Polynikis Kaimakis and Cathy Riemer and Webb Miller and Maria D Samara and Panagoula Kollia and Nicholas P. Anagnou and David H. K. Chui and Henri Wajcman and Ross C. Hardison and George P. Patrinos},
  journal={Human mutation},
  volume={28 2},
HbVar (http://globin.bx.psu.edu/hbvar) is a locus-specific database (LSDB) developed in 2001 by a multi-center academic effort to provide timely information on the genomic sequence changes leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies. Database records include extensive phenotypic descriptions, biochemical and hematological effects, associated pathology, and ethnic occurrence, accompanied by mutation frequencies and references. In addition to the regular… CONTINUE READING
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