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Items: 3

1.
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
L J Elsas, S Langley, E Steele, J Evinger, J L Fridovich-Keil, A Brown, R Singh, P Fernhoff, L N Hjelm, P P Dembure
Am J Hum Genet. 1995 Mar; 56(3): 630–639.
PMCID:
PMC1801164
SummaryPage BrowsePDF–1.9M
2.
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.
J K Reichardt, S Packman, S L Woo
Am J Hum Genet. 1991 Oct; 49(4): 860–867.
PMCID:
PMC1683190
SummaryPage BrowsePDF–1.2M
3.
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
J K Reichardt, S L Woo
Proc Natl Acad Sci U S A. 1991 Apr 1; 88(7): 2633–2637. doi: 10.1073/pnas.88.7.2633
Correction in:
Proc Natl Acad Sci U S A. 1991 Aug 15; 88(16): 7457.
PMCID:
PMC51292
SummaryPage BrowsePDF–1.0M

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