TY  - GEN
AU  - Nakamura,K
AU  - Fukao,T
AU  - Perez-Cerda,C
AU  - Luque,C
AU  - Song,X Q
AU  - Naiki,Y
AU  - Kohno,Y
AU  - Ugarte,M
AU  - Kondo,N
TI  - A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene
SN  - 1096-7192
PY  - 2001///0426
KW  - Acetyl-CoA C-Acyltransferase
KW  - deficiency
KW  - Binding Sites
KW  - Cysteine
KW  - chemistry
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Gene Deletion
KW  - Humans
KW  - Immunoblotting
KW  - Introns
KW  - Metabolism, Inborn Errors
KW  - genetics
KW  - Mitochondria
KW  - enzymology
KW  - Models, Genetic
KW  - Mutation
KW  - Point Mutation
KW  - RNA Splice Sites
KW  - RNA Splicing
KW  - RNA, Messenger
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Transfection
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1006/mgme.2000.3125
ER  -