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. [electronic resource]
Producer: 20061213Description: 280-2 p. digitalISSN:- 1096-7192
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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