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. 2014 Dec 10;9:180. doi: 10.1186/s13023-014-0180-y

Table 1.

Genotype and origin of MPS IIIC affected patients

Patient Origin Allele 1* Allele 2* Reference
SFCP Portugal c.234 + 1G > A c.234 + 1G > A This study
SFC3 Morocco c.234 + 1G > A c.234 + 1G > A [25]
SFC6 Spain c.633 + 1G > A c.1334T >  C [25]
SFC7 Spain c.372-2A > G c.372-2A > G [25]
SFC13 France c.1542 + 4dupA c.1150C > T This study

*Mutation nomenclature is based on cDNA sequence (NM_152419.2), with nucleotide +1 corresponding to the A of the ATG translation initiation codon.