Standard Sanger sequencing of the 14 exons and intron–exon boundaries of the HEXA gene was carried
out using an ABI 3730 DNA analyzer (Applied Biosystems). For Multiplex Ligation Dependent Probe
Amplification (MLPA) analysis the SALSA P199 HEXA from MRC Holland (www.mrc-holland.com) was
used, following the instructions of the manufacturer