Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia
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چکیده
منابع مشابه
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.
Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents fr...
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BACKGROUND Abetalipoproteinemia (ABL; OMIM 200100) is a rare monogenic disorder of lipid metabolism characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and almost complete absence of apolipoprotein B (apoB). ABL results from genetic deficiency in microsomal triglyceride transfer protein (MTP; OMIM 157147). In the present study we investi...
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ژورنال
عنوان ژورنال: Annals of Hepatology
سال: 2011
ISSN: 1665-2681
DOI: 10.1016/s1665-2681(19)31573-x