Compound heterozygosity with a novel S222N GALT mutation...

Molecular Genetics and Metabolism Reports 2015 / 03 Vol. 2

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, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D'Aco, Kristin
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Volume:
2
Language:
english
Journal:
Molecular Genetics and Metabolism Reports
DOI:
10.1016/j.ymgmr.2014.12.004
Date:
March, 2015
File:
PDF, 688 KB
english, 2015
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