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Article

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

Annals of hepatology - 1 Jan 2000

Sani Mehri Najafi, Sabbaghian Mozhgan, Mahjoob Fatemeh, Cefalù Angelo B, Averna Maurizio R, Rezaei Nima

Abstract excerpt

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 from Iran. The...

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PMID: 21502686

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Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.PMID 21502686Read ↗

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