Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia

DNA sequencing with chain-terminating inhibitors

Frederick Sanger, S. Nicklen, Alan Coulson · Proceedings of the National Academy of Sciences · 1977 · 69.1K citations · Full text

Dna, Engineering, Dna Analysis +20

Techniques in diagnostic human biochemical genetics

Emmanuel Shapira · Europe PMC (PubMed Central) · 1991 · 351 citations

Genetic Analysis, Genetic Testing, Molecular Diagnostic Techniques +7

Long-term outcome in 134 patients with galactosaemia

S. Schweitzer, Y. S. Shin, C. Jakobs et al. · European Journal of Pediatrics · 1993 · 225 citations

Diabetes, Long-term Outcome, Gastroenterology +4

Primary structure of the <i>Saccharomyces cerevisiae GAL7</i> gene

Tajima Masahiro, Yasuhisa Nogi, Toshio Fukasawa · Yeast · 1985 · 145 citations

The human galactose-1-phosphate uridyltransferase gene

Nancy D. Leslie, Elisa B. Immerman, James E. Flach et al. · Genomics · 1992 · 136 citations

Biosynthesis, Cellular Enzymology, Genetics +5