Article
Molecular and biochemical basis of galactosemia.
Molecular genetics and metabolism - 1 Apr 1998
Wang B B, Xu Y K, Ng W G, Wong L J
Abstract excerpt
Galactosemia is a clinically heterogeneous autosomal recessive inborn error of metabolism caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). Despite the numerous point mutations identified in the GALT gene, the prevalence of these mutations in different ethnic groups has not been studied. Reports on genotype/phenotype correlation are not consistent due to the small sample sizes studied and...
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