Supplementary Material
Additional file 1
Clinical involvement on specific functional systems.
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Additional file 2
Table with primers sequences and amplification conditions.
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Additional file 3
Table with URLs for biocomputational analysis.
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Additional file 4
Haplotype analysis of the GFAP genomic region by SNPs array (ILLUMINA HumanCytoSNP-12 BeadChip). Individuals are numbered according to the pedigree in Figure 1A.
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Additional file 5
Table with predictions of pathogenicity for GFAP p.R430H change.
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Additional file 6
Tables with Endeavour prioritization and the list of genes with homozygous, compound heterozygous or X-linked variants in patient 2.
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Additional file 7
Western-blot analysis of control fibroblasts treated with tubacin, a specific inhibitor of HDAC6.
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