A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Köbner
- 28 January 2003
- journal article
- case report
- Published by Oxford University Press (OUP) in Clinical and Experimental Dermatology
- Vol. 28 (1) , 77-79
- https://doi.org/10.1046/j.1365-2230.2003.01218.x
Abstract
We report the sixth case of a human keratin 14 ‘knockout’ mutation resulting in recessive epidermolysis bullosa simplex (EBS). A novel, homozygous nonsense mutation resulting from a deletion/insertio...Keywords
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