Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis
Author:
Affiliation:
1. Department of Dermatology; Hokkaido University Graduate School of Medicine; Sapporo Japan
2. Graduate School of Pharmaceutical Science; Tohoku University; Sendai Japan
Funder
JSPS KAKENHI
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.14675/fullpdf
Reference10 articles.
1. Inherited ichthyosis: non-syndromic forms;Takeichi;J Dermatol,2016
2. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA;Farasat;J Med Genet,2009
3. Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis;Rasheed;Pediatr Neonatol,2018
4. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1;Herman;Hum Mutat,2009
5. Nonsense-mediated mRNA decay in humans at a glance;Kurosaki;J Cell Sci,2016
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