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Article

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

Genomics - 1 Mar 1995

Lagerström-Fermér M, Nilsson M, Bäckman B, Salido E, Shapiro L, Pettersson U, Landegren U

Abstract excerpt

Formation of tooth enamel is a poorly understood biological process. In this study we describe a 9-bp deletion in exon 2 of the amelogenin gene (AMGX) causing X-linked hypoplastic amelogenesis imperfecta, a disease characterized by defective enamel. The mutation results in the loss of 3 amino acids and exchange of 1 in the signal peptide of the amelogenin protein. This deletion in the signal peptide probably...

Topics

Amelogenesis Imperfecta
Amelogenin
Base Sequence
Dental Enamel
Dental Enamel Proteins
Exons
Female
Gene Deletion
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Polymerase Chain Reaction

Protein Sorting Signals

Source

Identifiers

PMID: 7782077
DOI: 10.1016/0888-7543(95)80097-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7782077-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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