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Article

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.

Journal of human genetics - 1 Oct 2013

Özgül Rıza Köksal, Güzel-Ozantürk Ayşegül, Dündar Halil, Yücel-Yılmaz Didem, Coşkun Turgay, Sivri Serap, Aydoǧdu Sultan, Tokatlı Ayşegül, Dursun Ali

Abstract excerpt

Classical galactosemia is an inherited recessive disorder of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT), which is caused by mutations in the GALT gene. In this study, 56 Turkish patients diagnosed with galactosemia were screened for GALT gene mutations using Affymetrix resequencing microarrays. Eleven types of mutations were detected in these patients,...

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PMID: 23924834
DOI: 10.1038/jhg.2013.76

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GALT

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