Nalaganje...
    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...
        Shranjeno v:
      
    
                  | Main Authors: | , , , , , | 
|---|---|
| Format: | Artigo | 
| Jezik: | Inglês | 
| Izdano: | 
        SpringerOpen
    
      2016-07-01
     | 
| Serija: | Egyptian Journal of Medical Human Genetics | 
| Teme: | |
| Online dostop: | http://www.sciencedirect.com/science/article/pii/S1110863015001263 | 
| Oznake: | 
       Označite    
     
      Brez oznak, prvi označite!
   
 |