Concepedia

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita

Haihui Liao, Jane M. Sayers, Neil Wilson, Alan D. Irvine, Jemima E. Mellerio, Eulàlia Baselga, Susan J. Bayliss, Vera Uliana, Michele Fimiani, E. Birgitte Lane,

Journal of Dermatological Science · 2007 · 57 citations · 16 references

DOI

Concepts

References

16

New consensus nomenclature for mammalian keratins

Jürgen Schweizer, Paul E. Bowden, Pierre A. Coulombe et al. · The Journal of Cell Biology · 2006 · 749 citations · Full text

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Keratin 16 and keratin 17 mutations cause pachyonychia congenita

W.H. Irwin McLean, E.L. Rugg, Declan P. Lunny et al. · Nature Genetics · 1995 · 354 citations

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Mutation of a type II keratin gene (K6a) in pachyonychia congenita

Paul E. Bowden, Aleksej Kansky, Joseph A. Rothnagel et al. · Nature Genetics · 1995 · 233 citations

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Comprehensive analysis of keratin gene clusters in humans and rodents

Michael Hesse, Alexander Zimek, Klaus Weber et al. · European Journal of Cell Biology · 2004 · 192 citations · Full text

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A Mutation in Human Keratin K6b Produces a Phenocopy of the K17 Disorder Pachyonychia Congenita Type 2

Frances J.D. Smith, Marcel F. Jonkman, Harry van Goor et al. · Human Molecular Genetics · 1998 · 170 citations

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