Concepedia

Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation

Birgit Gathof, Marcia Sommer, Teodor Podskarbi, Juergen Reichardt, Andreas Braun, Ursula Gresser, Y. S. Shin

Human Genetics · 1995 · 27 citations · 13 references

DOI

Concepts

References

13

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

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Techniques in diagnostic human biochemical genetics

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

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Long-term outcome in 134 patients with galactosaemia

S. Schweitzer, Y. S. Shin, C. Jakobs et al. · European Journal of Pediatrics · 1993 · 227 citations

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The human galactose-1-phosphate uridyltransferase gene

Nancy D. Leslie, Elisa B. Immerman, James E. Flach et al. · Genomics · 1992 · 138 citations

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Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

Juergen Reichardt, Savio L.C. Woo · Proceedings of the National Academy of Sciences · 1991 · 106 citations

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