TY  - GEN
AU  - Korman,Stanley H
AU  - Pitt,James J
AU  - Boneh,Avihu
AU  - Dweikat,Imad
AU  - Zater,Mokhtar
AU  - Meiner,Vardiella
AU  - Gutman,Alisa
AU  - Brivet,Michèle
TI  - A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency
SN  - 1096-7192
PY  - 2007///0123
KW  - Amino Acid Metabolism, Inborn Errors
KW  - enzymology
KW  - DNA, Complementary
KW  - genetics
KW  - Fatal Outcome
KW  - Female
KW  - Genes, Lethal
KW  - Humans
KW  - Infant, Newborn
KW  - Membrane Transport Proteins
KW  - analysis
KW  - Mutation
KW  - RNA Splicing
KW  - Sequence Analysis, DNA
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ymgme.2006.06.009
ER  -