A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

We describe a new congenital disorder of glycosylation, CDG-If. The patient has severe psychomotor retardation, seizures, failure to thrive, dry skin and scaling with erythroderma, and impaired vision. CDG-If is caused by a defect in the gene MPDU1, the human homologue of hamster Lec35, and is the f...

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में प्रकाशित:	J Clin Invest
मुख्य लेखकों:	Kranz, Christian, Denecke, Jonas, Lehrman, Mark A., Ray, Sutapa, Kienz, Petra, Kreissel, Gunilla, Sagi, Dijana, Peter-Katalinic, Jasna, Freeze, Hudson H., Schmid, Thomas, Jackowski-Dohrmann, Sabine, Harms, Erik, Marquardt, Thorsten
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	American Society for Clinical Investigation 2001
विषय:	Article
ऑनलाइन पहुंच:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC200991/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11733556/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI13635
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