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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