Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.

Huizing, M

Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. [electronic resource] - American journal of human genetics Dec 1997 - 1239-45 p. digital

Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

0002-9297

10.1086/301628 doi


Amino Acid Sequence
Animals
Base Sequence
Carnitine--metabolism
Cells, Cultured
Child
Cloning, Molecular
Codon--genetics
DNA Mutational Analysis
DNA, Complementary--genetics
Fatty Acids--metabolism
Fatty Liver--genetics
Female
Fibroblasts--metabolism
Genes
Humans
Intracellular Membranes--metabolism
Lipid Metabolism, Inborn Errors--genetics
Mitochondria--metabolism
Molecular Sequence Data
Mutagenesis, Insertional
Open Reading Frames--genetics
Oxidation-Reduction
Rats
Species Specificity