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. Author manuscript; available in PMC: 2014 Jul 13.
Published in final edited form as: Horm Res Paediatr. 2013 Jul 13;80(1):10.1159/000351943. doi: 10.1159/000351943

Figure 2.

Figure 2

Figure 2

(a) Linkage analysis showing LOD score of 6.82 at chromosome 10q21–22. Shaded bar indicates the 11.1 cM shared haplotype region spanning 8.2 Mb and containing 48 genes. (b) Location of 3 novel disease-associated variants in non-coding regions of HK1. The promoters of the three HK1 isoforms are identified: PT (testes specific), PE (erythrocyte specific), and PU (ubiquitous). Tissue specific exons are designated T1-T6 and E1. Exons 2–18 are shared by all 3 isoforms. Transcription start sites are indicated with arrows.