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Your search keyword '"Malcorra-Azpiazu JJ"' showing total 2 results
Start Over Author "Malcorra-Azpiazu JJ" Topic thalassemia
2 results on '"Malcorra-Azpiazu JJ"'

2. Characterization of a newly discovered alpha-thalassaemia-1 in two Spanish patients with Hb H disease.

Author

Gonzalez-Redondo JM, Diaz-Chico JC, Malcorra-Azpiazu JJ, Balda-Aguirre MI, and Huisman TH

Subjects
Adolescent, Adult, Child, Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 16, DNA Probes, Female, Humans, Male, Middle Aged, Globins genetics, Thalassemia genetics
Abstract

A new deletion of more than 27 kb, removing the psi zeta 1, psi alpha 2, psi alpha 1, alpha 2, alpha 1 and theta 1 globin genes has been found in four members of a Spanish family, including two patients with Hb H disease. The 5' end point of the deletion is located between the zeta and psi zeta genes, and the 3' end of the deletion is downstream of the 3' hypervariable region.

Published
1988
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