Characterisation and confirmation of rare beta-thalassaemia mutations in the Malay, Chinese and Indian ethnic groups in Malaysia

Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster

Stuart H. Orkin, Haig H. Kazazian, Stylianos E. Antonarakis et al. · Nature · 1982 · 934 citations

Life Sciences, Genetics, Molecular Genetics +11

Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management

Tim C. P. Somervaille · Journal of the Royal Society of Medicine · 2001 · 431 citations · Full text

Life Sciences, Genetics, Hematology +17

A single-base change at a splice site in a β0-thalassemic gene causes abnormal RNA splicing

Richard Treisman, Nicholas Proudfoot, Monica H. M. Shander et al. · Cell · 1982 · 362 citations

Life Sciences, Genetics, Molecular Genetics +10

Rapid detection and prenatal diagnosis of β-thalassaemia: studies in Indian and Cypriot populations in the UK

Julie M. Old, Nermeen Varawalla, D. J. Weatherall · The Lancet · 1990 · 308 citations

Medicine, Genetics, Obstetrics +16

beta 0 thalassemia, a nonsense mutation in man.

Judy C. Chang, Y Kan · Proceedings of the National Academy of Sciences · 1979 · 297 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10