An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)

Authors:	Denecke Jonas Kranz Christian Kemming Dirk Koch Hans-Georg Marquardt Thorsten

Institution:	Department of Pediatrics, University Hospital of Münster, Münster, Germany. deneckj@uni-muenster.de

Abstract:

Keywords:	activated cryptic splice site ALG3 nonsense mediated mRNA decay congenital disorder of glycosylation type Id CDG‐Id glycosylation defect NOT56L
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