Characterization of a newly discovered α‐thalassaemia‐1 in two Spanish patients with Hb H disease
- 1 December 1988
- journal article
- research article
- Published by Wiley in British Journal of Haematology
- Vol. 70 (4) , 459-463
- https://doi.org/10.1111/j.1365-2141.1988.tb02517.x
Abstract
A new deletion of more than 27 kb, removing the Ψζ1, Ψα2, Ψα1, α2, α1 and θ1 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 ζ and Ψζ genes, and the 3’end of the deletion is downstream of the 3’hypervariable region.This publication has 26 references indexed in Scilit:
- Detection of specific sequences among DNA fragments separated by gel electrophoresisPublished by Elsevier ,2006
- Structure and expression of the human θl globin geneNature, 1988
- Characterization of a new α° thalassaemia defect in the South African populationBritish Journal of Haematology, 1987
- High resolution gene mapping of the human alpha globin locus.Journal of Medical Genetics, 1987
- A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16Nature, 1985
- Alpha thalassaemia in British people.BMJ, 1985
- Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype.Journal of Clinical Investigation, 1980
- The chromosomal arrangement of human α-like globin genes: Sequence homology and α-globin gene deletionsCell, 1980
- Further Nodification of the Mtcrochromatographic Deternination of Hemoglobin AHemoglobin, 1977
- A membrane-filter technique for the detection of complementary DNABiochemical and Biophysical Research Communications, 1966