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

✍ Scribed by Toshiyuki Fukao; Satomi Sakurai; Marie-Odile Rolland; Marie-Therese Zabot; Andreas Schulze; Keitaro Yamada; Naomi Kondo

• Book ID: 116987868
• Publisher: Elsevier Science
• Year: 2006
• Tongue: English
• Weight: 180 KB
• Volume: 89
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2006.04.014