A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis.

doi:10.1111/1523-1747.ep12365483

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Article

A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis.

The Journal of investigative dermatology - 1 Sept 1996

Yang J M, Nam K, Park K B, Kim W S, Moon K C, Koh J K, Steinert P M, Lee E S

Abstract excerpt

We report a novel mutation in a case of epidermolytic hyperkeratosis that results in a proline for arginine substitution in the penultimate residue position of the H1 subdomain of the keratin 1 chain, which is near the beginning of the rod domain. This causes a severe clinical disease classified...

Topics

Amino Acid Sequence
Base Sequence
Humans
Hyperkeratosis, Epidermolytic
Keratins
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Severity of Illness Index

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