Characterization of a new alpha-thalassemia-1 mutation in a Spanish family.

doi:10.3109/03630269409014143

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Article

Characterization of a new alpha-thalassemia-1 mutation in a Spanish family.

Hemoglobin - 1 Jan 1994

Villegas A, Sanchez J, Ricard P, Gonzalez F A, Del Potro E, Armada B, Carreno D L, Espinos D

Abstract excerpt

A novel alpha-thalassemia-1 deletion of 14-15.4 kb that removes the alpha-2, alpha-1, theta-1 genes and pseudo-alpha-1 genes, has been detected in a father and 2 of his children from northern Spain.

Topics

Adult
Blotting, Southern
Child
Chromosomes, Human, Pair 16
Female
Gene Deletion
Gene Frequency
Globins
Heterozygote
Humans
Male
Mutation
Polymorphism, Restriction Fragment Length
Prevalence
Pseudogenes
Spain
alpha-Thalassemia

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