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. 2018 Oct 5;5:28. doi: 10.1038/s41439-018-0027-5

Table 1.

GALC enzyme activities in patient lymphocytes, phenotype, genetic analysis

Patient number GALC enzyme activities (nmol/h/mg protein) (Normal 0.75 ± 0.27) Phenotype Genotype
Sanger sequence MLPA
1 0.03 Infantile [N.D]; [N.D] c.(?_-29)_(195 + 1_196-1)del
2 0.0 Infantile c.658 C > T (p.Arg220*); [N.D.] c.(752 + 1_753-1)_(908 + 1_909-1)del
3 0.28 Infantile c.175 G > C (p. Gly59Arg); [N.D.] c.(1033 + 1_1032-1)_(1251 + 1_1252-1)del
4 0.1 Late Infantile c.1901T > C (p.Leu634Ser); [N.D.] N.D.
5 0.2 Adult [N.D.]; [N.D.] N.D.

N.D. not detected