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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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| Main Authors: | , , , , , |
|---|---|
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
SpringerOpen
2016-07-01
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| Sraith: | Egyptian Journal of Medical Human Genetics |
| Ábhair: | |
| Rochtain Ar Líne: | http://www.sciencedirect.com/science/article/pii/S1110863015001263 |
| Clibeanna: |
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