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Article

MMP20 active-site mutation in hypomaturation amelogenesis imperfecta.

Journal of dental research - 1 Nov 2005

Ozdemir D, Hart P S, Ryu O H, Choi S J, Ozdemir-Karatas M, Firatli E, Piesco N, Hart T C

Abstract excerpt

The Amelogenesis Imperfecta (AI) are a group of clinically and genetically heterogeneous disorders that affect enamel formation. To date, mutations in 4 genes have been reported in various types of AI. Mutations in the genes encoding the 2 enamel proteases, matrix metalloproteinase 20 (MMP20) and kallikrein 4 (KLK4), have each been reported in a single family segregating autosomal-recessive hypomaturation AI. To...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16246936
DOI: 10.1177/154405910508401112
PMCID: PMC1850238

Genes

MMP20
KLK4

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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