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Article

A splice site mutation in the gene of the human type I hair keratin hHa1 results in the expression of a tailless keratin isoform.

The Journal of biological chemistry - 19 Dec 1997

Winter H, Hofmann I, Langbein L, Rogers M A, Schweizer J

Abstract excerpt

In this study, we have elucidated the molecular mechanisms underlying the expression of an acidic 41-kDa protein inherited as an autosomal dominant trait of the hair keratin pattern of about 5% of the human population. We show that this protein is a size variant of the large type I hair cortex ke...

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Identifiers

PMID: 9405442
DOI: 10.1074/jbc.272.51.32345

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9405442-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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