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. 2016 Jan 6;24(7):976–984. doi: 10.1038/ejhg.2015.254

Table 2. Gene array patient clinical characteristics.

Group Healthy control Galactosaemia
Ethnicity Irish Irish Dutch
Patients 10 26 6
Age 30 (19–41) 33 (17–49) 21 (18–23)
Gender 6F, 4M 16F, 10M 4F, 2M
Genotype (nucleotide annotation) NA 21: (c.563A>G/c.563A>G), 1: (c.563A>G/c.997C>T), 1: (c.563A>G/c.580T>C), 1: (c.563A>G/ c.379A>G) 2:(c.563A>G/c.563A>G), 2: (c.584T>C/c.687G>T)
Genotype (protein variant) NA 21: (p.Q188R/p.Q188R), 1: (p.Q188R/p.R333W), 1: (p.Q188R/p.F194L), 1: (p.Q188R/p.K127E) 2: (p.Q188R/p.Q188R), 2: (p.L195P/p.K229N)