Characterization of a newly discovered α-thalassaemia-1 in two Spanish patients with Hb H disease
| Autor: | M. I. Balda-Aguirre, J. J. Malcorra-Azpiazu, J. C. Diaz-Chico, Titus H.J. Huisman, J. M. Gonzalez-Redondo |
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| Rok vydání: | 1988 |
| Předmět: |
Adult
Male Adolescent Alpha (ethology) Biology Theta-1-Globin medicine Humans Hb h disease Globin Child Gene Genetics End point Chromosome Mapping Hematology Middle Aged medicine.disease Globins Hypervariable region Hemoglobinopathy Thalassemia Female Chromosome Deletion DNA Probes Chromosomes Human Pair 16 |
| Zdroj: | British Journal of Haematology. 70:459-463 |
| ISSN: | 1365-2141 0007-1048 |
| DOI: | 10.1111/j.1365-2141.1988.tb02517.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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