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Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient

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. We report the case of a Tunisian male child born from...

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Bibliografiske detaljer
Main Authors: Hager Barakizou, Souha Gannouni, Khalil Messaoui, Mathilde Difilippo, Agnès Sassolas, Fethi Bayoudh
Format: Artigo
Sprog:Inglês
Udgivet: SpringerOpen 2016-07-01
Serier:Egyptian Journal of Medical Human Genetics
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Online adgang:http://www.sciencedirect.com/science/article/pii/S1110863015001263
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