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ANGELO BALDASSARE CEFALU'

Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up

  • Autori: Gündüz, M.; Özaydın, E.; Atar, M.; Koç, N.; Kırsaçlıoğlu, C.; Köse, G.; Cefalu', A.; Averna, M.; Tarugi, P.
  • Anno di pubblicazione: 2016
  • Tipologia: Articolo in rivista (Articolo in rivista)
  • OA Link: http://hdl.handle.net/10447/183596

Abstract

Abetalipoproteinemia (ABL; OMIM 200100) is a rare autosomal recessive disease that affects the absorption of dietary fats and fat soluble vitamins. Here, we describe the clinical and genetic characteristics of three patients with ABL. Two patients (patients 1 and 2) who were carriers of the c.398-399delAA mutation (previously known mutation) had developmental delay and hepatic steatosis developed at the age of five in patient 1. Patient 3 was the carrier of a novel mutation (g.10886-10902delAAGgtaagtttgtgttg in intron 3 and c.506A>T exon 5) in microsomal triglyceride transfer protein (MTP) gene and had hepatic steatosis.