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. Author manuscript; available in PMC: 2012 Feb 5.
Published in final edited form as: J Neurol Sci. 2007 Jul 30;263(1-2):100–106. doi: 10.1016/j.jns.2007.06.047

Table 2.

Polymorphisms found in the BSCL2 and the GARS gene

Polymorphism Literature Number
BSCL2
Exon 3: c.294+ 11
G>T		 None 8 heterozygous,
2 homozygous
Exon 4: c.295-34
A>T		 None 2 heterozygous
Exon 6: c.574-49
T>C		 rs2850597 10 heterozygous,
8 homozygous
Exon 8: c.814-50
T>G		 None 2 heterozygous
Exon 9: c.945
A>G, p.E315E		 None 11 heterozygous,
2 homozygous
GARS
Exon 1: c.60 + 5
C>T		 rs2072236 2 heterozygous
Exon 6: c.177-43
C>A		 rs1558064 6 heterozygous,
10 homozygous
Exon 9: c.870-23
A>T		 rs2527878 2 heterozygous
Exon 12: c.1451+
9 T>C		 None 2 heterozygous
Exon 17: c.1933-6
C>T		 rs2240401 7 heterozygous,
10 homozygous