Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype

Additional supporting information may be found in the online version of this article at the publisher's web-site. Supplementary Figure S1. GBA and GBAP gene with some common recombinants. Supplementary Figure S2. a: Simple PCR of GBA causing coamplification of GBAP gene resulting in detection of 55 bp deletion, D409H, L444P, A456P, and V460V in sequence chromatogram of a normal individual. b: Long PCR primers and gel electrophorgram showing the amplified GBA gene. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.