Article
A common mutation associated with the Duarte galactosemia allele.
American journal of human genetics - 1 Jun 1994
Elsas L J, Dembure P P, Langley S, Paulk E M, Hjelm L N, Fridovich-Keil J
Abstract excerpt
The human cDNA and gene for galactose-1-phosphate uridyl transferase (GALT) have been cloned and sequenced. A prevalent mutation (Q188R) is known to cause classic galactosemia (G/G). G/G galactosemia has an incidence of 1/38,886 in 1,396,766 Georgia live-born infants, but a more common variant of galactosemia, Duarte, has an unknown incidence. The proposed Duarte biochemical phenotypes of GALT are as follows:...
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