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Article

A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.

American journal of human genetics - 1 Jul 2001

Dreyer B, Tranebjaerg L, Brox V, Rosenberg T, Möller C, Beneyto M, Weston M D, Kimberling W J, Cremers C W, Liu X Z, Nilssen O

Abstract excerpt

Usher syndrome type IIa is an autosomal recessive disorder characterized by mild-to-severe hearing loss and progressive visual loss due to retinitis pigmentosa. The mutation that most commonly causes Usher syndrome type IIa is a 1-bp deletion, described as "2299delG," in the USH2A gene. The mutation has been identified in several patients from northern and southern Europe and from North America, and it has been...

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Identifiers

PMID: 11402400
DOI: 10.1086/321269
PMCID: PMC1226039

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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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