Associated Papers
Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia.
Cocanougher B et al.
Data in Brief, 2015
Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease.
Cocanougher B et al.
Molecular Genetics and Metabolism Reports, 2015
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