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The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
Hunter M, Heyer E, Austerlitz F, Angelicheva D, Nedkova V, Briones P, Gata A, de Pablo R, László A, Bosshard N, Gitzelmann R, Tordai A, Kalmar L, Szalai C, Balogh I, Lupu C, Corches A, Popa G, Perez-Lezaun A, Kalaydjieva LV. Hunter M, et al. Among authors: austerlitz f. Pediatr Res. 2002 May;51(5):602-6. doi: 10.1203/00006450-200205000-00010. Pediatr Res. 2002. PMID: 11978884
Vlax Roma history: what do coalescent-based methods tell us?
Chaix R, Austerlitz F, Morar B, Kalaydjieva L, Heyer E. Chaix R, et al. Among authors: austerlitz f. Eur J Hum Genet. 2004 Apr;12(4):285-92. doi: 10.1038/sj.ejhg.5201126. Eur J Hum Genet. 2004. PMID: 14760363
84 results