Sökning: "Abetalipoproteinemia"

Hittade 1 uppsats innehållade ordet Abetalipoproteinemia.

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

    Master-uppsats, Institutionen för fysik, kemi och biologi

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

    Sammanfattning : 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. LÄS MER