Fig. 4.

Analysis of fragments of SLC30A6 cDNA from lymphoblasts and fibroblasts from Mother 1, Mother 2 and corresponding controls to elucidate splice site variants. a, b Fragment of SLC30A6 cDNA from lymphoblast and fibroblast showing a deletion of 43 and 49 nucleotides (double dots), respectively, in control, Mother 1 and Mother 2, along with full-length cDNA. c Diagram illustrating the different exon–intron structure of the SLC30A6 gene. In lymphoblasts, the full-length mRNA coexisted with the alternatively spliced form (missing exon IV); in fibroblasts, an alternatively spliced form of SLC30A6 which did not show exon IX was present, together with the full-length version of mRNA