Sökning: "Abetalipoproteinemia"
Hittade 1 uppsats innehållade ordet Abetalipoproteinemia.
1. Characterization of the genetic basis in two cases of abetalipoproteinemia reveals two novel mutations
Master-uppsats, Institutionen för fysik, kemi och biologiSammanfattning : 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
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