Novel compound heterozygous FATP 4 mutations caused ichthyosis prematurity syndrome in Spanish sisters

Appendix S1. RNA extraction, cDNA synthesis and RT-PCR sequencing methodology. Table S1. Primers used for sequencing FATP4 mRNA splicing events. Table S2. Relative proportion of all identified transcripts in patients, their parents and healthy controls obtained by the three different strategies (peripheral blood and puromycin treated and non –treated cultivated blood). Figure S1. Potential effects on splicing regulatory elements for the...