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Article

Novel MMP20 and KLK4 Mutations in Amelogenesis Imperfecta.

Journal of dental research - 1 Aug 2015

Seymen F, Park J-C, Lee K-E, Lee H-K, Lee D-S, Koruyucu M, Gencay K, Bayram M, Tuna E B, Lee Z H, Kim Y-J, Kim J-W

Abstract excerpt

In order to achieve highly mineralized tooth enamel, enamel proteinases serve the important function of removing the remaining organic matrix in the mineralization and maturation of the enamel matrix. Mutations in the kallikrein 4 (KLK4), enamelysin (MMP20), and WDR72 genes have been identified as causing hypomaturation enamel defects in an autosomal-recessive hereditary pattern. In this report, 2 consanguineous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26124219
DOI: 10.1177/0022034515590569

Genes

KLK4
MMP20

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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