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

Table 2 GALNS gene polymorphisms in Tunisian patients

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
6^a	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

ISSN: 1746-1596