Article
Characterization of the 5' and 3' breakpoints of the Spanish (δβ)0-thalassemia deletion in Mexican patients.
Hemoglobin - 1 Jan 2011
Guzmán Luis F, Perea Francisco J, Morales-González Karina R, Sánchez-López Josefina Y, de la Cruz Eduardo I, Chávez-Velasco M Luz, Ibarra C Bertha
Abstract excerpt
We studied five unrelated Mexican carriers of the Spanish (δβ)(0)-thalassemia [(δβ)(0)-thal] mutation to characterize the size of the deletion, the 5' and 3' breakpoints and the 5' β-globin haplotype. Sequence analysis revealed the presence of an 89,548 bp deletion. The δ- and β-globin genes, two olfactory receptor genes (OR51V1 and OR52A1) and two pseudogenes (OR52Z1P and OR51A1P) were deleted. The 5' breakpoint...
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