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Table 2 GALNS gene polymorphisms in Tunisian patients

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

Polymorphisms Patients Amino acid Nucléotide Exon/intron
1 Patient 6 L67M CTG > ATG Exon 2
2 a Patient 1, patient 2, patient 3, patient 4, patient 5, patient 6, patient 7 H236H CAC > CAT Exon 7
3 a Patient 1, patient 2, patient 3, patient 4, patient 5, patient 6, patient 7 E477E GAG > GAA Exon 13
4 Patient 7 IVS13+75T-A* GTG > GAG Intron 13
5 Patient 7 IVS3+684C-A* AAC > ACC Intron 3
6a Patient 1, patient 2, patient 3, patient 4, patient 5, patient 6, patient 7 - A > G Intron 5
7 a Patient 1, patient 2, patient 3, patient 4, patient 5, patient 6, patient 7 - A > T Intron 7
8 a Patient 1, patient 2, patient 3, patient 4, patient 5, patient 6, patient 7 A393S GCC > TCC Exon 11
9 a Patient 1, patient 2, patient 3, patient 4, patient 5, patient 6, patient 7 - A > G Exon 14
  1. * Novel polymorphisms; a: polymorphisms used for haplotypes determination