Essays about: "Abetalipoproteinemia"

Found 1 essay containing the word Abetalipoproteinemia.

  1. 1. Characterization of the genetic basis in two cases of abetalipoproteinemia reveals two novel mutations

    University essay from Institutionen för fysik, kemi och biologi

    Author : Erika Gunnar; [2010]
    Keywords : Abetalipoproteinemia; DNA sequencing; multiplex ligation-dependent probe amplification; microsomal triglyceride transfer protein; mutation screening; paternity testing; restriction fragment length polymorphism; polymorphic markers;

    Abstract : BACKGROUND: Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by mutations in the gene coding for microsomal triglyceride transfer protein (MTTP). AIM: To characterize the genetic basis of ABL in two unrelated patients. RESULTS: In the first patient, the substitution c. READ MORE