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Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.

作者信息

Ittiwut Chupong, Manuyakorn Wiparat, Tongkobpetch Siraprapa, Benjaponpitak Suwat, Fisher Megan R, Milner Joshua D, Lyons Jonathan J, Suphapeetiporn Kanya, Shotelersuk Vorasuk

机构信息

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.

Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand.

出版信息

J Clin Immunol. 2020 Jan;40(1):227-231. doi: 10.1007/s10875-019-00693-6. Epub 2019 Nov 9.

DOI:10.1007/s10875-019-00693-6
PMID:31707513
Abstract
摘要

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