Literature DB >> 21463361

Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis.

Teruhiko Makino, Megumi Furuichi, Yukie Asano, Tadamichi Shimizu.   

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Year:  2011        PMID： 21463361     DOI： 10.1111/j.1346-8138.2011.01234.x

Source DB:  PubMed          Journal:  J Dermatol        ISSN： 0385-2407            Impact factor:   4.005


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  2 in total

1.  Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.

Authors:  Haris Mirza; Anil Kumar; Brittany G Craiglow; Jing Zhou; Corey Saraceni; Richard Torbeck; Bruce Ragsdale; Paul Rehder; Annamari Ranki; Keith A Choate
Journal:  J Invest Dermatol       Date:  2015-06-15       Impact factor: 8.551

2.  Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma.

Authors:  Changxing Li; Pingjiao Chen; Silong Sun; Kang Zeng; Jingyao Liang; Qi Wang; Sanquan Zhang; Meinian Xu; Zhijia Li; Xibao Zhang
Journal:  Mol Genet Genomic Med       Date:  2019-05-09       Impact factor: 2.183
  2 in total

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