TY  - GEN
AU  - Fukao,Toshiyuki
AU  - Zhang,Gaixiu
AU  - Rolland,Marie-Odile
AU  - Zabot,Marie-Therese
AU  - Guffon,Nathalie
AU  - Aoki,Yusuke
AU  - Kondo,Naomi
TI  - Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency
SN  - 1096-7192
PY  - 2008///0328
KW  - Acetyl-CoA C-Acetyltransferase
KW  - deficiency
KW  - Alu Elements
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Female
KW  - Gene Duplication
KW  - Genome, Human
KW  - Humans
KW  - Mitochondrial Diseases
KW  - Polymerase Chain Reaction
KW  - Recombination, Genetic
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2007.07.007
ER  -