Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Elsas L. J., Dembure P. P., Langley S., Paulk E. M., Hjelm L. N., Fridovich-Keil J. A common mutation associated with the Duarte galactosemia allele. Am J Hum Genet. 1994 Jun;54(6):1030–1036. [PMC free article] [PubMed] [Google Scholar]
- Elsas L. J., Langley S., Steele E., Evinger J., Fridovich-Keil J. L., Brown A., Singh R., Fernhoff P., Hjelm L. N., Dembure P. P. Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Am J Hum Genet. 1995 Mar;56(3):630–639. [PMC free article] [PubMed] [Google Scholar]
- Fridovich-Keil J. L., Langley S. D., Mazur L. A., Lennon J. C., Dembure P. P., Elsas J. L., 2nd Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family. Am J Hum Genet. 1995 Mar;56(3):640–646. [PMC free article] [PubMed] [Google Scholar]
- Leslie N. D., Immerman E. B., Flach J. E., Florez M., Fridovich-Keil J. L., Elsas L. J. The human galactose-1-phosphate uridyltransferase gene. Genomics. 1992 Oct;14(2):474–480. doi: 10.1016/s0888-7543(05)80244-7. [DOI] [PubMed] [Google Scholar]
- Lin H. C., Kirby L. T., Ng W. G., Reichardt J. K. On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT). Hum Genet. 1994 Feb;93(2):167–169. doi: 10.1007/BF00210604. [DOI] [PubMed] [Google Scholar]
- Reichardt J. K., Belmont J. W., Levy H. L., Woo S. L. Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia. Genomics. 1992 Mar;12(3):596–600. doi: 10.1016/0888-7543(92)90453-y. [DOI] [PubMed] [Google Scholar]
- Reichardt J. K., Levy H. L., Woo S. L. Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase. Biochemistry. 1992 Jun 23;31(24):5430–5433. doi: 10.1021/bi00139a002. [DOI] [PubMed] [Google Scholar]
- Reichardt J. K., Woo S. L. Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. Proc Natl Acad Sci U S A. 1991 Apr 1;88(7):2633–2637. doi: 10.1073/pnas.88.7.2633. [DOI] [PMC free article] [PubMed] [Google Scholar]