TY  - GEN
AU  - Fukao,Toshiyuki
AU  - Sakurai,Satomi
AU  - Rolland,Marie-Odile
AU  - Zabot,Marie-Therese
AU  - Schulze,Andreas
AU  - Yamada,Keitaro
AU  - Kondo,Naomi
TI  - A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency
SN  - 1096-7192
PY  - 2006///1213
KW  - Base Pairing
KW  - Base Sequence
KW  - Coenzyme A-Transferases
KW  - deficiency
KW  - DNA Mutational Analysis
KW  - Exons
KW  - genetics
KW  - Female
KW  - Humans
KW  - Infant
KW  - Introns
KW  - Molecular Sequence Data
KW  - RNA Splice Sites
KW  - RNA Splicing
KW  - Sequence Deletion
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2006.04.014
ER  -