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Article

EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family.

Journal of human genetics - 1 Jan 1999

Usami S, Abe S, Shinkawa H, Deffenbacher K, Kumar S, Kimberling W J

Abstract excerpt

Advances in molecular genetics have recently revealed that mutations in the EYA1 gene are responsible for branchio-oto-renal (BOR) syndrome in European and other populations. This is the first report confirming that an EYA1 gene mutation is also disease-causing in an Asian population. We have described one Japanese BOR syndrome family showing a novel mutation in exon 7 of the EYA1 gene. There was extensive...

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Source

Identifiers

PMID: 10429368
DOI: 10.1007/s100380050156

Genes

EYA1

Provenance

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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