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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene

Fig. 2

Breakpoint mapping and characterization of the PANK2 exon 3–4 deletion. A Schematic representation of 5016 bp deletion breakpoints. B Sequence analysis showing breakpoints of the exon 3–4 large deletion. Breakpoints of this deletion are inside Alu repeats indicating Alu-mediated homologous recombination. C Sequence alignment at deletion breakpoints. Boxes indicate the Alu-sequence homology

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