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Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma
Clinical and Experimental Dermatology, 10/28/09
Christiano AM et al. – The affected members of all five families possess mutations in the KRT9 gene that severely affect heterodimer formation with the type II keratin partner. The results of study further underscore the crucial role of K9 protein in the palmoplantar epidermis.
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