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Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia.

Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia.

Authors :
Tan R
Rozmus J
Turvey SE
Biggs CM
Source :
Journal of clinical immunology [J Clin Immunol] 2023 Aug; Vol. 43 (6), pp. 1139-1142. Date of Electronic Publication: 2023 Apr 28.
Publication Year :
2023

Details

Language :
English
ISSN :
1573-2592
Volume :
43
Issue :
6
Database :
MEDLINE
Journal :
Journal of clinical immunology
Publication Type :
Report
Accession number :
37115363
Full Text :
https://doi.org/10.1007/s10875-023-01489-5