Title : An alanine to proline mutation in the 1A rod domain of the keratin 10 chain in epidermolytic hyperkeratosis.

Pub. Date : 1997 Nov

PMID : 9347802






2 Functional Relationships(s)
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1 An alanine to proline mutation in the 1A rod domain of the keratin 10 chain in epidermolytic hyperkeratosis. Alanine keratin 10 Homo sapiens
2 We report a mutation in a case of epidermolytic hyperkeratosis that results in a proline for alanine substitution in the residue position 12 of the 1A subdomain of the keratin 10 chain (codon 158). Alanine keratin 10 Homo sapiens