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Article

Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification.

Human mutation - 1 Aug 2008

Lee Sook-Kyung, Hu Jan C-C, Bartlett John D, Lee Kyung-Eun, Lin Brent P-J, Simmer James P, Kim Jung-Wook

Abstract excerpt

Dental enamel forms through the concerted activities of specialized extracellular matrix proteins, including amelogenin, enamelin, MMP20, and KLK4. Defects in the genes encoding these proteins cause non-syndromic inherited enamel malformations collectively designated as amelogenesis imperfecta (AI). These genes, however, account for only about a quarter of all AI cases. Recently we identified mutations in FAM83H...

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Share to Amelogenesis Imperfecta
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix

Share to Genes, Dominant

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Share to Protein Structure, Tertiary

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Source

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Identifiers

PMID: 18484629
DOI: 10.1002/humu.20789
PMCID: PMC2889227

Genes

KLK4
MMP20

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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