Genetic analysis of a novel splice-site mutation inTMC8reveals thein vivoimportance of the transmembrane channel-like domain ofTMC8
Author:
Affiliation:
1. Department of Dermatology; Hokkaido University Graduate School of Medicine; North 15 West 7 Kita-ku Sapporo 060-8638 Japan
Funder
Japan Society for the Promotion of Science
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.14569/fullpdf
Reference14 articles.
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2. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis;Ramoz;Nat Genet,2002
3. A novel homozygous mutation of the EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis;Aochi;Br J Dermatol,2007
4. Lack of EVER2 protein in two epidermodysplasia verruciformis patients with skin cancer presenting previously unreported homozygous genetic deletions in the EVER2 gene;Landini;J Invest Dermatol,2012
5. Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis;Tate;J Hum Genet,2004
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3. Case of epidermodysplasia verruciformis with a novel mutation of TMC8;The Journal of Dermatology;2021-08-29
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