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.
Fukao, Toshiyuki
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] - Molecular genetics and metabolism Nov 2006 - 280-2 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1096-7192
10.1016/j.ymgme.2006.04.014 doi
Base Pairing
Base Sequence
Coenzyme A-Transferases--deficiency
DNA Mutational Analysis
Exons--genetics
Female
Humans
Infant
Introns--genetics
Molecular Sequence Data
RNA Splice Sites--genetics
RNA Splicing--genetics
Sequence Deletion
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] - Molecular genetics and metabolism Nov 2006 - 280-2 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1096-7192
10.1016/j.ymgme.2006.04.014 doi
Base Pairing
Base Sequence
Coenzyme A-Transferases--deficiency
DNA Mutational Analysis
Exons--genetics
Female
Humans
Infant
Introns--genetics
Molecular Sequence Data
RNA Splice Sites--genetics
RNA Splicing--genetics
Sequence Deletion