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A novel mutation (p. Lys199Asn) in KRT5 resulting in different epidermolysis bullosa simplex phenotypes of a Chinese family

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A novel KRT5 mutation, p.Lys199Asn, is a

✍ Deng, Weiping; Yuan, Ping; Lai, Wei; Chen, Minhua; Wang, Yiming; Dai, Shaoxia 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 318 KB

Gene dosage effect of p.Glu170Lys mutati

✍ Ołdak, Monika; Szczecińska, Weronika; Przybylska, Dorota; Maksym, Radosław B.; P 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 499 KB

Two novel recessive mutations in KRT14 i

✍ M. García; J.L. Santiago; A. Terrón; A. Hernández-Martín; A. Vicente; C. Fortuny 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 557 KB

A mutation in exon 1 of keratin 14 resul

✍ XL Li; SX Xiao; ZH Peng; Y Liu; M Pan; SN Zhou 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 139 KB

A new mutation in the linker 12 domain o

✍ J.-G. Li; J. Feng; S.-X. Xiao; Y.-L. Ai; J.-M. Wang; Z.-H. Peng 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 147 KB

A keratin 14 ‘knockout’ mutation in rece

✍ K. Batta; E.L. Rugg; N.J. Wilson; N. West; H. Goodyear; E.B. Lane; M. Gratian; P 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 936 KB