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Article

X-linked ocular albinism: prevalence and mutations--a national study.

European journal of human genetics : EJHG - 1 Jan 2000

Rosenberg T, Schwartz M

Abstract excerpt

In a national retrospective register study 112 patients with ocular albinism (OA) were identified, including 60 male patients with proven or presumed X-linked ocular albinism (XLOA). Based on the birth year cohorts 1960-1989, an XLOA point prevalence at birth of 1 in 60,000 live-born was calculated. We identified 14 XLOA families in the Danish population, and obtained DNA from affected persons in nine families....

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PMID: 9887374
DOI: 10.1038/sj.ejhg.5200226

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