Rayinda, Tuntas and McSweeney, Sheila M. and Fassihi, Hiva and Fenton, David and Liu, Lu and Stefanato, Catherine M. and Dand, Nick and McGrath, John A. and Tziotzios, Christos (2023) A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex. Clinical and Experimental Dermatology, 48 (7). pp. 840-843. ISSN 03076938
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Official URL: https://www.scopus.com/inward/record.uri?eid=2-s2....
Item Type: | Article |
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Additional Information: | Cited by: 0; All Open Access, Hybrid Gold Open Access |
Uncontrolled Keywords: | ribosomal protein l21; ribosome protein; unclassified drug; actinic keratosis; adult; alopecia; Article; autosomal dominant inheritance; basal cell carcinoma; biopsy; British citizen; case report; Caucasian; clinical article; eyebrow; eyelash; familial disease; filtration; hair follicle; hair loss; heterozygosity; human; human tissue; hypotrichosis simplex; male; medical genetics; medical history; missense mutation; phenotype; physical examination; protein structure; quality control; risk factor; Sanger sequencing; scalp; scalp disease; scar; smoking; solar elastosis; squamous cell carcinoma; sun exposure; whole exome sequencing |
Subjects: | R Medicine > RL Dermatology |
Divisions: | Faculty of Medicine, Public Health and Nursing > Non Surgical Divisions |
Depositing User: | Annisa Fitria Nur Azizah Annisa Fitria Nur Azizah |
Date Deposited: | 17 May 2024 01:11 |
Last Modified: | 17 May 2024 01:11 |
URI: | https://ir.lib.ugm.ac.id/id/eprint/1251 |