Journal article

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency

Stanley H Korman, James J Pitt, Avihu Boneh, Imad Dweikat, Mokhtar Zater, Vardiella Meiner, Alisa Gutman, Michèle Brivet

Molecular Genetics and Metabolism | Elsevier BV | Published : 2006