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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: aneva l. Am J Hum Genet. 1999 Nov;65(5):1299-307. doi: 10.1086/302611. Am J Hum Genet. 1999. PMID: 10521295 Free PMC article.
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.
Taneva A, Gresham D, Guergueltcheva V, Chamova T, Bojinova V, Gospodinova M, Katzarova M, Petkov R, Voit T, Aneva L, Asenov O, Georgieva B, Mihaylova V, Bichev S, Todorov T, Todorova A, Kalaydjieva L, Tournev I. Taneva A, et al. Among authors: aneva l. Genes (Basel). 2024 Aug 30;15(9):1144. doi: 10.3390/genes15091144. Genes (Basel). 2024. PMID: 39336735 Free PMC article.
Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations.
Tournev I, Kalaydjieva L, Youl B, Ishpekova B, Guergueltcheva V, Kamenov O, Katzarova M, Kamenov Z, Raicheva-Terzieva M, King RH, Romanski K, Petkov R, Schmarov A, Dimitrova G, Popova N, Uzunova M, Milanov S, Petrova J, Petkov Y, Kolarov G, Aneva L, Radeva O, Thomas PK. Tournev I, et al. Among authors: aneva l. Ann Neurol. 1999 Jun;45(6):742-50. Ann Neurol. 1999. PMID: 10360766