Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia

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 molecul...

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Bibliographic Details
Main Authors: Mehri Najafi Sani, Mozhgan Sabbaghian, Fatemeh Mahjoob, Angelo B. Cefalù, Maurizio R. Averna, Nima Rezaei
Format: Article
Language:English
Published: Elsevier 2011-04-01
Series:Annals of Hepatology
Subjects:
Abetalipoproteinemia.
ApoB-containing lipoproteins.
Hypocholesterolemia.
MTP gene mutations.
Online Access:http://www.sciencedirect.com/science/article/pii/S166526811931573X

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http://www.sciencedirect.com/science/article/pii/S166526811931573X

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