A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
Korman, Stanley H
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency. [electronic resource] - Molecular genetics and metabolism Dec 2006 - 332-8 p. digital
Publication Type: Case Reports; Journal Article
1096-7192
10.1016/j.ymgme.2006.06.009 doi
Amino Acid Metabolism, Inborn Errors--enzymology
DNA, Complementary--genetics
Fatal Outcome
Female
Genes, Lethal
Humans
Infant, Newborn
Membrane Transport Proteins--analysis
Mutation
RNA Splicing--genetics
Sequence Analysis, DNA
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency. [electronic resource] - Molecular genetics and metabolism Dec 2006 - 332-8 p. digital
Publication Type: Case Reports; Journal Article
1096-7192
10.1016/j.ymgme.2006.06.009 doi
Amino Acid Metabolism, Inborn Errors--enzymology
DNA, Complementary--genetics
Fatal Outcome
Female
Genes, Lethal
Humans
Infant, Newborn
Membrane Transport Proteins--analysis
Mutation
RNA Splicing--genetics
Sequence Analysis, DNA