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Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens.

Suga Y, Arin MJ, Scott G, Goldsmith LA, Magro CM, Baden LA, Baden HP, Roop DR. Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens. Exp Dermatol. 2000 Feb; 9(1):11-5.

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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.