Identification of SERPINB7 mutations in Korean patients with Nagashima-type palmoplantar keratosis
Author:
Affiliation:
1. Department of Dermatology and Cutaneous Biology Research Institute; Gangnam Severance Hospital; Yonsei University College of Medicine; Seoul Korea
2. Department of Dermatology; Hokkaido University Graduate School of Medicine; Sapporo Japan
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.13545/fullpdf
Reference5 articles.
1. Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis;Kubo;Am J Hum Genet,2013
2. Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency;Kubo;J Invest Dermatol,2014
3. New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis;Yin;J Invest Dermatol,2014
4. Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis;Mizuno;Br J Dermatol,2014
5. Identification of previously unknown SERPINB7 splice variants in patients with Nagashima-type palmoplantar keratosis reveals the importance of the CD-loop of SERPINB7;Suzuki;Br J Dermatol,2015
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1. Spontaneous clinical remission of Nagashima‐type palmoplantar keratoderma in a patient of Korean descent with a heterozygous SERPINB7 mutation;Pediatric Dermatology;2024-01-02
2. SERPINB7 mutation causes Nagashima‐type palmoplantar keratosis and its spatiotemporal expression in zebrafish;Experimental Dermatology;2023-02-20
3. La génétique des kératodermies palmoplantaires isolées;Annales de Dermatologie et de Vénéréologie - FMC;2022-03
4. Hereditary palmoplantar keratoderma – phenotypes and mutations in 64 patients;Journal of the European Academy of Dermatology and Venereology;2021-05-21
5. Nagashima-Type Palmoplantar Keratosis: Clinical Characteristics, Genetic Characterization, and Clinical Management;BioMed Research International;2021-01-27
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