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Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia.
Tan, Ryan; Rozmus, Jacob; Turvey, Stuart E; Biggs, Catherine M.
Affiliation
  • Tan R; Department of Pediatrics, BC Children's Hospital, University of British Columbia, 4480 Oak Street, Room 1C31B, Vancouver, BC, V6H 3V4, Canada.
  • Rozmus J; Department of Pediatrics, BC Children's Hospital, University of British Columbia, 4480 Oak Street, Room 1C31B, Vancouver, BC, V6H 3V4, Canada.
  • Turvey SE; Department of Pediatrics, BC Children's Hospital, University of British Columbia, 4480 Oak Street, Room 1C31B, Vancouver, BC, V6H 3V4, Canada.
  • Biggs CM; Department of Pediatrics, BC Children's Hospital, University of British Columbia, 4480 Oak Street, Room 1C31B, Vancouver, BC, V6H 3V4, Canada. cbiggs@bcchr.ca.
J Clin Immunol ; 43(6): 1139-1142, 2023 08.
Article in En | MEDLINE | ID: mdl-37115363

Full text: 1 Database: MEDLINE Main subject: Osteochondrodysplasias / RNA, Long Noncoding / Primary Immunodeficiency Diseases / Hirschsprung Disease Type of study: Diagnostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: J Clin Immunol Year: 2023 Type: Article Affiliation country: Canada

Full text: 1 Database: MEDLINE Main subject: Osteochondrodysplasias / RNA, Long Noncoding / Primary Immunodeficiency Diseases / Hirschsprung Disease Type of study: Diagnostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: J Clin Immunol Year: 2023 Type: Article Affiliation country: Canada