Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

Soohyun Kim, Vibeke Westphal, Geetha Srikrishna, Darshini P. Mehta, Sandra Peterson, James Filiano, Pamela S. Karnes, Marc C. Patterson, Hudson H. Freeze

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139 Scopus citations

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Medicine & Life Sciences