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. 2009 Mar 24;10:29. doi: 10.1186/1471-2350-10-29

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Copyright © 2009 Park et al; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Identification of sequence variations in the GALK1 promoter region. Sequencing revealed the presence of a mutation of c.-22T>C (A). Gel electrophoresis patterns of PCR amplified DNA fragments digested with BsgI for the confirmation of c.-22T>C (B) are shown (Lane M, DNA size marker; lane 1, C/C; lane2, T/C; lane 3, T/T). BsgI recognizes the sequence GTGCAG (underlined in A electrophoretogram) present in wild type c.-22T, but not in c.-22C. The PCR fragment from genotype c.-22C/C, c.-22T/C and c.-22T/T will produce (à produce) one (339 bp), three (339, 267 and 72 bp) and two (267 and 72 bp) bands.