Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families

J Dermatol. 2018 Feb;45(2):e45-e46. doi: 10.1111/1346-8138.14087. Epub 2017 Oct 17.

Authors

Bin Mao¹, Jing Zhang¹, Yi You¹, Jifang Xiao¹, Xiuli Zhao¹

Affiliation

¹ Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, China.

PMID: 29044727
DOI: 10.1111/1346-8138.14087

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Asian People / genetics
DNA Mutational Analysis
Female
Humans
Keratin-9 / genetics*
Keratoderma, Palmoplantar, Epidermolytic / genetics*
Male
Mutation
Pedigree
Polymorphism, Single Nucleotide
Protein Domains / genetics

Substances

KRT9 protein, human
Keratin-9