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Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations

BACKGROUND: 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. RESULTS: We used two highly-specific...

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Detalles Bibliográficos
Autores principales: Hung, Chia-Cheng, Su, Yi-Ning, Lin, Chia-Yun, Chang, Yin-Fei, Chang, Chien-Hui, Cheng, Wen-Fang, Chen, Chi-An, Lee, Chien-Nan, Lin, Win-Li
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2525636/
https://www.ncbi.nlm.nih.gov/pubmed/18694524
http://dx.doi.org/10.1186/1472-6750-8-62