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Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype |
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| Authors: | Irem Kalay Cagri Gulec Mehmet Cihan Balcı Guven Toksoy Gulden Gokcay Seher Basaran Mubeccel Demirkol Zehra Oya Uyguner |
| Affiliation: | 1. Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey;2. Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey |
| Abstract: | |
| Keywords: | Duarte variant galactose galactose 1-phosphate uridylyltransferase Galactosemia GALT gene genotype–phenotype inherited metabolic disease Turkish cohort |