TY  - GEN
AU  - Taroni,F
AU  - Verderio,E
AU  - Dworzak,F
AU  - Willems,P J
AU  - Cavadini,P
AU  - DiDonato,S
TI  - Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients
SN  - 1061-4036
PY  - 1993///0924
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Carnitine O-Palmitoyltransferase
KW  - deficiency
KW  - DNA
KW  - genetics
KW  - Enzyme Stability
KW  - Gene Frequency
KW  - Humans
KW  - Molecular Sequence Data
KW  - Myoglobinuria
KW  - enzymology
KW  - Point Mutation
KW  - Recurrence
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ng0793-314
ER  -