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Article

Barth syndrome: TAZ gene mutations, mRNAs, and evolution.

American journal of medical genetics. Part A - 1 May 2005

Gonzalez Iris L

Abstract excerpt

Barth syndrome (MIM 302060) is an X-linked condition that includes dilated cardiomyopathy, neutropenia, failure to thrive, abnormal mitochondria, and 3-methylglutaconic aciduria. The mutated gene, TAZ, first described in 1996, appeared to produce a large set of alternatively spliced mRNAs with initiations of transcription upstream of exons 1 and 3. Since then, disease-causing mutations have been found in all...

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Source

Identifiers

PMID: 15793838
DOI: 10.1002/ajmg.a.30661

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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.

Related research

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Barth syndrome: TAZ gene mutations, mRNAs, and evolution.PMID 15793838Read ↗

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