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

Journal of Clinical Investigation - Tập 105 Số 2 - Trang 191-198 - 2000
Soohyun Kim1, Vibeke Westphal2, Geetha Srikrishna2, Darshini P. Mehta2, Sandra M. Peterson2, James J. Filiano3, Pamela S. Karnes4, Marc C. Patterson5, Hudson H. Freeze2
1Sanford Burnham Prebys Medical Discovery Institute
2Sanford-Burnham-Prebys Medical Discovery Institute
3Dartmouth College,
4Mayo Clinic Rochester-MN
5Mayo Clinic and Foundation, Rochester, Minnesota, 55905, USA

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