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Article

Identification of a nonsense mutation in the PAX9 gene in molar oligodontia.

European journal of human genetics : EJHG - 1 Oct 2001

Nieminen P, Arte S, Tanner D, Paulin L, Alaluusua S, Thesleff I, Pirinen S

Abstract excerpt

Development of dentition is controlled by numerous genes, as has been shown by experimental animal studies and mutations that have been identified by genetic studies in man. Here we report a nonsense mutation in the PAX9 gene that is associated with molar tooth agenesis in a Finnish family. The A340T transversion creates a stop codon at lysine 114, and truncates the coded PAX9 protein at the end of the...

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Source

Identifiers

PMID: 11781684
DOI: 10.1038/sj.ejhg.5200715

Genes

PAX9

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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