Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of ?-thalassaemia in the Portuguese population
- 1 July 1992
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 89 (5) , 573-576
- https://doi.org/10.1007/bf00219188
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- Detection of specific sequences among DNA fragments separated by gel electrophoresisPublished by Elsevier ,2006
- Locus assignment of human a globin mutations by selective amplification and direct sequencingBritish Journal of Haematology, 1990
- β THALASSAEMIA MUTATIONS IN MEDITERRANEAN POPULATIONSBritish Journal of Haematology, 1989
- Fine Structure Genetic Analysis of a β-Globin PromoterScience, 1986
- Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in MediterraneansNature, 1984
- Prenatal Diagnosis of β-ThalassemiaNew England Journal of Medicine, 1983
- β+Thalassaemia—Portuguese type: clinical, haematological and molecular studies of a newly defined form of β thalassaemiaBritish Journal of Haematology, 1983
- Specific transcription and RNA splicing defects in five cloned β-thalassaemia genesNature, 1983
- A single-base change at a splice site in a β0-thalassemic gene causes abnormal RNA splicingCell, 1982
- Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene clusterNature, 1982