RMRPmutations in cartilage-hair hypoplasia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference28 articles.
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2. Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations;Bonafé;PLoS Genet,2005
3. Consequences of mutations in the noncoding RMRP RNA in Cartilage-Hair Hypoplasia;Hermanns;Hum Mol Genet,2005
4. Dwarfism in the Amish. Ii. Cartilage-Hair Hypoplasia;McKusick;Bull Johns Hopkins Hosp,1965
5. Cartilage-hair hypoplasia-Clinical manifestations in 108 Finnish patients;Mäkitie;Eur J Pediatr,1993
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1. Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients;Scientific Reports;2024-06-11
2. Cartilage-hair hypoplasia–anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report;Medicine;2024-05-24
3. A Novel Method to Isolate RNase MRP Using RNA Streptavidin Aptamer Tags;BIO-PROTOCOL;2023
4. Targeting mitochondria in dermatological therapy: beyond oxidative damage and skin aging;Expert Opinion on Therapeutic Targets;2022-03-04
5. Immunologic heterogeneity in two Cartilage-Hair Hypoplasia (CHH) patients with distinct clinical course;Journal of Investigational Allergy and Clinical Immunology;2022-02-10
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