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Article

Target gene analyses of 39 amelogenesis imperfecta kindreds.

European journal of oral sciences - 1 Dec 2011

Chan Hui-Chen, Estrella Ninna M R P, Milkovich Rachel N, Kim Jung-Wook, Simmer James P, Hu Jan C-C

Abstract excerpt

Previously, mutational analyses identified six disease-causing mutations in 24 amelogenesis imperfecta (AI) kindreds. We have since expanded the number of AI kindreds to 39, and performed mutation analyses covering the coding exons and adjoining intron sequences for the six proven AI candidate genes [amelogenin (AMELX), enamelin (ENAM), family with sequence similarity 83, member H (FAM83H), WD repeat containing...

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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: 22243262
DOI: 10.1111/j.1600-0722.2011.00857.x
PMCID: PMC3292789

Genes

AMELX
ENAM
MMP20
AMBN
KLK4

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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