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

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
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在琥珀酰辅酶 A:3-酮酸辅酶 A 转移酶 (SCOT) 缺陷患者中,第一个内含子剪接供体位点处的 6 bp 缺失导致使用外显子 1 内隐秘剪接位点的异常剪接

DOI:
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发表时间:
2006
期刊:
Mol Genet Metab 89
影响因子:
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通讯作者:
et. al.
et. al.
中科院分区:
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文献类型:
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作者:
Fukao;T.;et. al.

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