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Article

Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations.

Archives of oral biology - 1 Apr 2002

Hart P S, Aldred M J, Crawford P J M, Wright N J, Hart T C, Wright J T

Abstract excerpt

Amelogenin, the predominant matrix protein in developing dental enamel, is considered essential for normal enamel formation, but its exact functions are undefined. Mutations in the AMELX gene that encodes for amelogenin protein cause X-linked amelogenesis imperfecta (AI), with phenotypes characterized by hypoplastic and/or poorly mineralized enamel. Eight different AMELX deletion and substitution mutations have...

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Source

Identifiers

PMID: 11922869
DOI: 10.1016/s0003-9969(02)00003-1

Genes

AMELX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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