A novel β-thalassemia mutation (G→A) at the initiation codon of the β-globin gene

DNA sequencing with chain-terminating inhibitors

Frederick Sanger, S. Nicklen, Alan Coulson · Proceedings of the National Academy of Sciences · 1977 · 69.3K citations · Full text

Life Sciences, Microbiology, Molecular Biology +10

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

Charles R. Newton, Alexander Graham, Lesley Heptinstall et al. · Nucleic Acids Research · 1989 · 2.5K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

Ulf Gyllensten · Proceedings of the National Academy of Sciences · 1988 · 1.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.

H H Kazazian · PubMed · 1990 · 274 citations

Medicine, Genetics, Molecular Genetics +16