Essays about: "L1CAM"
Found 1 essay containing the word L1CAM.
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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 medicinAbstract : 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
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