Essays about: "L1CAM"

Found 1 essay containing the word L1CAM.

  1. 1. PCR Optimisation and Sequencing of L1CAM for the Verification of a Mutation in a Family with L1 Syndrome

    University essay from Institutionen för klinisk och experimentell medicin

    Author : Malin Eriksson; [2009]
    Keywords : L1CAM; L1 syndrome; PCR optimisation; cycle sequencing;

    Abstract : L1 syndrome is an X-linked recessive disorder, characterised by congenital hydrocephalus, adducted thumbs, spastic paraplegia, agenesis of the corpus callosum and mental retardation. The disease is caused by mutations in the L1CAM gene, encoding a protein predominantly expressed in the nervous system. READ MORE