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Article

Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.

American journal of human genetics - 9 Apr 2010

Shimomura Yutaka, Wajid Muhammad, Petukhova Lynn, Kurban Mazen, Christiano Angela M

Abstract excerpt

Autosomal-dominant woolly hair (ADWH) is a rare disorder characterized by tightly curled hair. The molecular basis of ADWH has not previously been reported. In this study, we identified a Pakistani family with ADWH. The family showed linkage to chromosome 12q12-q14.1, containing the type II keratin gene cluster. We discovered a heterozygous mutation, p.Asn148Lys, within the helix initiation motif of the keratin...

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Topics

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Share to Amino Acid Substitution
Share to Chromosomes, Human, Pair 12

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Linkage

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Share to Heterozygote

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Share to Sequence Homology, Amino Acid

Source

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Identifiers

PMID: 20346438
DOI: 10.1016/j.ajhg.2010.02.025
PMCID: PMC2850421

Genes

KRT74

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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