Article
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
Pediatric research - 1 May 2002
Hunter Michael, Heyer Evelyne, Austerlitz Frederic, Angelicheva Dora, Nedkova Vania, Briones Paz, Gata Anna, de Pablo Rosaario, László Aranka, Bosshard Nills, Gitzelmann Richard, Tordai Attila, Kalmar Lajos, Szalai Csaba, Balogh Istvan, Lupu Contantin, Corches Axinia, Popa Gabriela, Perez-Lezaun Anna, Kalaydjieva Luba Vd
Abstract excerpt
Galactokinase deficiency is an inborn error of metabolism that, if untreated, results in the development of cataracts in the first weeks of life. The disorder is rare worldwide, but has a high incidence among the Roma (Gypsies). In 1999, we reported the founder Romani mutation, P28T, identified in affected families from Bulgaria. Subsequent studies have detected the same mutation in Romani patients from different...
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