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Rothnagel et al., 1994 - Google Patents

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

Rothnagel et al., 1994

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Document ID
4114785945792186186
Author
Rothnagel J
Traupe H
Wojcik S
Huber M
Hohl D
Pittelkow M
Saeki H
Ishibashi Y
Roop D
Publication year
Publication venue
Nature genetics

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Snippet

Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant skin disorder that resembles epidermolytic hyperkeratosis (EHK). We have indentified mutations in two families originally diagnosed with EHK and in four families diagnosed with IBS at the same codon in the highly …
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