![](/img/cover-not-exists.png)
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
Toshiyuki Fukao, Satomi Sakurai, Marie-Odile Rolland, Marie-Therese Zabot, Andreas Schulze, Keitaro Yamada, Naomi KondoVolume:
89
Year:
2006
Language:
english
DOI:
10.1016/j.ymgme.2006.04.014
File:
PDF, 180 KB
english, 2006