Additional file 1: Figure S1. of The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8
- Amir Jahic (499797)
- Mukhran Khundadze (499790)
- Nadine Jaenisch (106524)
- Rebecca Schüle (115028)
- Sven Klimpe (3471779)
- Stephan Klebe (3471773)
- Christiane Frahm (106537)
- Jan Kassubek (67768)
- Giovanni Stevanin (115032)
- Ludger Schöls (115054)
- Alexis Brice (41775)
- Christian Hübner (3471812)
- Christian Beetz (499802)
Publication date
November 2015
DOIAbstract
KIAA0196-specific MLPA probes. Shown are exons against which probes were designed, plus neighbouring intronic sequence. The MLPA probe binding sequence is underlined. White underlined space indicates the ligation site. Marked in yellow is the stop codon in the terminal exon 29, while the nucleotide marked in red represents SNP rs188863489 which served as a positive control. Stretches of Ns indicate intronic sequence masked out by repeat masker [ http://www.repeatmasker.org/ ]. (DOC 28 kb
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