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. 2014 Feb 1;18(2):83–87. doi: 10.1089/gtmb.2013.0323

Table 3.

Investigated Disorders, Including Affected Genes, Mutation Sites, Reported Carrier Rates, and Affected Roma Groups

Disease	Gene	Mutation site	Reported carrier rates	Roma groups where the disorder has been noted so far	Ref.
HMSNL	NDRG1	R148X	2% (16%)^a	Balkan Roma (Kalaidjii North, Musicians, Xoroxane, Turgovzi)	Morar et al. (2004)
	8q24	564C→T		Vlax Roma (Lom^a, Rudari, Kalderash)
				Western Roma (Lithuanian, Spanish, Hungarian)
GM1	GLB1	R59H	2% (10%)^a	Vlax Roma (Rudari^a)	Sinigerska et al. (2006)
	3p21.33	c.176G→A
CCFDN	CTDP1	C→T substitution 389 bp downstream of the exon 6/intron 6 junction	1.4% (7%)^a	Balkan Roma (Musicians, Feredjelli, Xoroxane),	Morar et al. (2004)
	18qter			Vlax Roma (Kalderash, Rudari^a)
				Western Roma (Spanish)
LGMD2C	γ-SG	C283Y	2% (6%)^a	Balkan Roma (Turgovzi^a, Darakchii^a, Musicians)	Morar et al. (2004)
	13q12	848 G→A		Western Roma (Hungarian, Spanish)

^{^a}

High-risk groups and rates.