Article
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.
Human molecular genetics - 1 Jan 1995
Verderio E, Cavadini P, Montermini L, Wang H, Lamantea E, Finocchiaro G, DiDonato S, Gellera C, Taroni F
Abstract excerpt
Carnitine palmitoyltransferase (CPT) II deficiency is the most common inherited disorder of lipid metabolism affecting skeletal muscle. To facilitate the identification of disease-causing mutations in the CPT II gene (CPT1), we have established the genomic organization of this gene. CPT1 spans ap...
Topics
- Adult
- Amino Acid Sequence
- Animals
- Base Sequence
- Carnitine O-Palmitoyltransferase
- DNA
- DNA Restriction Enzymes
- Exons
- Humans
- Introns
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- RNA, Messenger
- Sequence Alignment