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, Michele Brivet

Molecular Genetics and Metabolism | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2006

DOI: 10.1016/j.ymgme.2006.06.009

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Keywords

Functional-Analysis
Mutation
Genetics & Heredity
Female
Membrane Transport Proteins
Sequence Analysis, Dna
Amino Acid Metabolism, Inborn Errors
Endocrinology & Metabolism
Carnitine/metabolism
Carnitine-Acylcarnitine Carrier
Dna, Complementary
Science & Technology
Molecular Defect
Gene
Newborn
Prenatal Diagnosis
Humans
Rna Splicing
Mutation Analysis
Research & Experimental Medicine
Fatal Outcome
Splice Mutation
Post-Mortem Diagnosis
Diagnosis
Infant, Newborn
Carrier Deficiency
Medicine, Research & Experimental
Cysteine Residues
Genes, Lethal
Site-Directed Mutagenesis
Chemical-Modification
Identification
Death
Mitochondrial Fatty Acid Oxidation
Life Sciences & Biomedicine