Identification of a novel MTTP splice variant c.394-2A>C in an infant with abetalipoproteinemia

Abstract

Identification of a novel MTTP splice variant c.394-2A˃C in an infant with abetalipoproteinemia Dinesha M. Vidanapathirana1,2* Eresha Jasinge1, Samantha Waidyanatha3, Amanda J. Hooper4,5, John R. Burnett4,5 1Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Sri Lanka 2Department of Pathology, Faculty of Medical Sciences, University of Sri Jayewardenepura, Sri Lanka 3Department of Paediatrics, Lady Ridgeway Hospital, Sri Lanka 4Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia 5School of Medicine, University of Western Australia, Australia