Amplicons electrophoretic results of Exon 1–5 (exon 1, 2 and 3 in separate tubes and exon 4, 5 in same tube). Here only exon 4 and 5 depicted. M) marker 50bp, 1, 2) two normal samples with both exon 4, 5 HEXB and internal control primers, 3) normal sample with primers for exon 4, 5, 4) proband's PCR product with both inernal and exon 4,5 primers, 5) proband's PCR product with only exon 4, 5 primers
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