Impact of patient mutations on heterodimer formation and function in human galactose-1-P uridylyltransferase
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference25 articles.
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2. Metabolic and Molecular Bases of Inherited Disease;Holton,2000
3. Long-term prognosis in galactosemia: results of a survey of 350 cases;Waggoner;J. Inherit. Metab. Dis.,1990
4. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene;Tyfield;Hum. Mutat.,1999
5. Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase;Riehman;J. Biol. Chem.,2001
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3. Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency;Archives of Physiology and Biochemistry;2014-09-30
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