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Article

Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1).

Human mutation - 1 Jan 1995

Lench N J, Winter G B

Abstract excerpt

Amelogenins are an heterogenous family of proteins produced by ameloblasts of the enamel organ during tooth development. Disturbances of enamel formation occur in amelogenesis imperfecta, a clinically heterogenous group of inherited disorders characterised by defective enamel biomineralisation. An amelogenin gene, AMGX, has been mapped to the short of the X chromosome (Xp22.1-p22.3) and has been implicated in the...

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Identifiers

PMID: 7599636
DOI: 10.1002/humu.1380050310

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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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Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1).PMID 7599636Read ↗

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Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6.Semantic proximity Read ↗

A nomenclature for X-linked amelogenesis imperfecta.Semantic proximity Read ↗

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.Semantic proximity Read ↗

An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the LiteratureSemantic proximity Read ↗

Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta.Semantic proximity Read ↗

Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations.Semantic proximity Read ↗

Clinical features of a family with X-linked amelogenesis imperfecta mapping to a new locus (AIH3) on the long arm of the X chromosome.Semantic proximity Read ↗

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