Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1).

doi:10.1007/BF00220469

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Article

Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1).

Human genetics - 1 Dec 1992

Aldred M J, Crawford P J, Roberts E, Thomas N S

Abstract excerpt

A family with X-linked amelogenesis imperfecta (XAI) is described in which the disease is associated with a nonsense mutation in exon 5 of the amelogenin gene. This mutation involves a single base deletion (CCCC-->CCC) in the exon in an affected male, his sister and his mother. The effect of this deletion is to alter the reading frame and to introduce an inappropriate TGA stop codon (an opal mutation) into the...

Topics

Adolescent
Adult
Amelogenesis Imperfecta
Amelogenin
Amino Acid Sequence
Base Sequence
DNA
Dental Enamel Proteins
Female
Genetic Linkage
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pedigree

Polymerase Chain Reaction

Tooth Germ

X Chromosome

Source

Open in PubMed

Identifiers

PMID: 1483698
DOI: 10.1007/BF00220469

Genes

AMELX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1483698-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1).PMID 1483698Read ↗

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