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1. Defining a new immune deficiency syndrome: MAN2B2-CDG.

Author

Verheijen J, Wong SY, Rowe JH, Raymond K, Stoddard J, Delmonte OM, Bosticardo M, Dobbs K, Niemela J, Calzoni E, Pai SY, Choi U, Yamazaki Y, Comeau AM, Janssen E, Henderson L, Hazen M, Berry G, Rosenzweig SD, Aldhekri HH, He M, Notarangelo LD, and Morava E

Subjects
Child, Female, Glycosylation, Humans, Immunologic Deficiency Syndromes genetics, Mannosidase Deficiency Diseases genetics, alpha-Mannosidase genetics
Published
2020
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