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 |
|
|
||||
|
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 |
|
|
||||
|
* Novel polymorphisms; a: polymorphisms used for haplotypes determination |
||||
|
Khedhiri et al. Diagnostic Pathology 2011 6:11 doi:10.1186/1746-1596-6-11 |
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