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Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.

Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, Saeki H, Ishibashi Y, Roop DR. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nat Genet. 1994 Aug; 7(4):485-90.

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