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. 2009 Apr 8;17(10):1354–1358. doi: 10.1038/ejhg.2009.43

Table 1. Base changes identified through DHPLC mutation screening and direct sequencing.

Exon Change DbSNP reference Intronic/exonic Positiona No. of individuals (N=49)
2 G-to-A Intronic −28 bp 1
5 C-to-G Exonic +132 bp 1
9 C-to-T Intronic +13 bp 1
15 C-to-A rs7638391 Intronic +19 bp 10
16 G-to-T Intronic −14 bp 1
a

Position is given as upstream (−) or downstream (+) of exon/intron boundary.

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