Ontology highlight
ABSTRACT:
SUBMITTER: Hung CC
PROVIDER: S-EPMC2525636 | biostudies-literature | 2008
REPOSITORIES: biostudies-literature
Hung Chia-Cheng CC Su Yi-Ning YN Lin Chia-Yun CY Chang Yin-Fei YF Chang Chien-Hui CH Cheng Wen-Fang WF Chen Chi-An CA Lee Chien-Nan CN Lin Win-Li WL
BMC biotechnology 20080812
<h4>Background</h4>Beta-thalassemia is a common autosomal recessive hereditary disease in the Meditertanean, Asia and African areas. Over 600 mutations have been described in the beta-globin (HBB), of which more than 200 are associated with a beta-thalassemia phenotype.<h4>Results</h4>We used two highly-specific mutation screening methods, mismatch-specific endonuclease and denaturing high-performance liquid chromatography, to identify mutations in the HBB gene. The sensitivity and specificity o ...[more]