Lanean...
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...
Gorde:
Egile Nagusiak: | , , , , , |
---|---|
Formatua: | Artigo |
Hizkuntza: | Inglês |
Argitaratua: |
SpringerOpen
2016-07-01
|
Saila: | Egyptian Journal of Medical Human Genetics |
Gaiak: | |
Sarrera elektronikoa: | http://www.sciencedirect.com/science/article/pii/S1110863015001263 |
Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|