Article
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.
Atherosclerosis - 1 Jun 2005
Di Leo Enza, Lancellotti Sandra, Penacchioni Junia Y, Cefalù Angelo B, Averna Maurizio, Pisciotta L, Bertolini Stefano, Calandra Sebastiano, Gabelli Carlo, Tarugi Patrizia
Abstract excerpt
Familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL) are inherited disorders of apolipoprotein B (apo B)-containing lipoproteins that result from mutations in apo B and microsomal triglyceride transfer protein (MTP) genes, respectively. Here we report three patients with severe deficiency of plasma low-density lipoprotein (LDL) and apo B. Two of them (probands F.A. and P.E.) had clinical and...
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