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Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia.
J Clin Immunol. 2023 Aug;43(6):1139-1142. doi: 10.1007/s10875-023-01489-5. Epub 2023 Apr 28.
J Clin Immunol. 2023.
PMID: 37115363
Free PMC article.
No abstract available.
Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition.
Bleier M, Yuskiv N, Priest T, Moisa Popurs MA, Stockler-Ipsiroglu S; BC Children's Hospital; University of British Columbia.
Bleier M, et al.
Mol Genet Metab Rep. 2018 Jul 20;16:57-63. doi: 10.1016/j.ymgmr.2018.06.006. eCollection 2018 Sep.
Mol Genet Metab Rep. 2018.
PMID: 30094186
Free PMC article.
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