Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.

Taroni, F

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. [electronic resource] - Nature genetics Jul 1993 - 314-20 p. digital

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

1061-4036

10.1038/ng0793-314 doi


Alleles
Amino Acid Sequence
Base Sequence
Carnitine O-Palmitoyltransferase--deficiency
DNA--genetics
Enzyme Stability--genetics
Gene Frequency
Humans
Molecular Sequence Data
Myoglobinuria--enzymology
Point Mutation
Recurrence