A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R.
Kalaydjieva L, et al. Among authors: tournev i.
Am J Hum Genet. 1999 Nov;65(5):1299-307. doi: 10.1086/302611.
Am J Hum Genet. 1999.
PMID: 10521295
Free PMC article.