Skip to main content

Table 3 Haplotypes and mutations detected within the studied patients

From: Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: Implication in Morquio A disease

Patients

Haplotypes

Mutations

1

A/B/c/d/e/H

IVS1+1G-A

Exon 1

2

A/B/c/d/e/H

IVS1+1G-A

Exon 1

3

A/B/c/d/e/H

IVS1+1G-A

Exon 1

4

A/B/c/d/e/H

IVS1+1G-A

Exon 1

5

A/B/c/d/e/H

IVS1+1G-A

Exon 1

6

A/b/c/D/e/h

G66R

Exon 2

7

A/b/C/d/E/H

A85T

Exon 3