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Article

Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.

Human mutation - 1 Jan 1998

Kumar S, Kimberling W J, Weston M D, Schaefer B G, Berg M A, Marres H A, Cremers C W

Abstract excerpt

The Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. Recent studies have shown that mutations in EYA1 are associated with BOR. However, the underlying molecular mechanisms by which mutat...

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Amino Acid Sequence
Base Sequence
DNA Primers
Exons
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nuclear Proteins

Source

Identifiers

PMID: 9603436
DOI: 10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S

Genes

EYA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-9603436-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.PMID 9603436Read ↗

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