Nature Genetics
- 38, 1032 - 1037 (2006)
Published online: 13 August 2006; | doi:10.1038/ng1858
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disabilityCharles Shaw-Smith, Alan M Pittman, Lionel Willatt, Howard Martin, Lisa Rickman, Susan Gribble, Rebecca Curley, Sally Cumming, Carolyn Dunn, Dimitrios Kalaitzopoulos, Keith Porter, Elena Prigmore, Ana C V Krepischi-Santos, Monica C Varela, Celia P Koiffmann, Andrew J Lees, Carla Rosenberg, Helen V Firth, Rohan de Silva & Nigel P Carter Supplementary Fig. 1 (pdf 24K)
FISH images for selected probes. Supplementary Fig. 2 (pdf 24K)
Depiction of possible nonallelic homologous recombination events in inversion heterozygote and homozygote parents. Supplementary Table 1 (pdf 20K)
FISH probes used to determine deletion size relative to fully sequenced tiling path clones. Supplementary Table 2 (pdf 52K)
Probes used to determine deletion size relative to H1 and H2 haplotypes in patients 1–3. Supplementary Table 3 (pdf 16K)
PCR primer sequences for genotyping SNPs and MAPT-repeat-t used in the haplotype analysis in the triads. Supplementary Table 4 (pdf 32K)
Genotype results of the SNPs, the H1/H2 insertion/deletion polymorphism and the tetranucleotide MAPT-repeat-t in the three trials.
|
