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https://doi.org/10.1007/s10545-010-9045-2
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Cite Publication Date: Feb 12, 2010 | |
 Citations: 11 |
Affiliation: University of Tartu, Tartu University Hospital, Asper Biotech (Estonia)
Classical galactosemia (McKusick 230400) is an autosomal recessive genetic disease caused by deficiency of galactose-1-pbospbate uridyltransferase (GALT) activity. The gene that encodes GALT is located on chromosome 9p13, and more than 230 mutations have been identified so far (Calderon et al 2007).
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