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Is the Duchenne muscular dystrophy gene also an X-linked retinitis pigmentosa locus?

作者信息

Phelan J K, Bok D

机构信息

Department of Pediatrics, University of California, Los Angeles 90095, USA.

出版信息

Mol Genet Metab. 2000 May;70(1):81-3. doi: 10.1006/mgme.2000.2992.

Abstract

Deletion mutations and linkage mapping have localized an X-linked retinitis pigmentosa locus to Xp21, and a disease gene (RPGR) has been characterized. However, mutations have not been identified in most families expected to segregate the disease at this locus. Here, a retina-specific mRNA transcript from the Duchenne muscular dystrophy gene is identified. Based on these data, it is hypothesized that the Duchenne muscular dystrophy gene may represent a second Xp21 site at which retinitis pigmentosa mutations occur.

摘要

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