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Journal article

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

Abstract:

Bestrophin-1 is preferentially expressed at the basolateral membrane of the retinal pigmented epithelium (RPE) of the retina. Mutations in the BEST1 gene cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopathy, and autosomal-recessive bestrophinopathy. Here, we describe four missense mutations in bestrophin-1, three that we believe are previously unreported, in patients diagnosed with autosomal-dominant and -recessive forms of retinitis pigmentosa (...

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Publication status:
Published

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Publisher copy:
10.1016/j.ajhg.2009.09.015

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Journal:
American journal of human genetics
Volume:
85
Issue:
5
Pages:
581-592
Publication date:
2009-11-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:0e9114cd-688d-4ce0-99ce-9d5d76db9767
Source identifiers:
70996
Local pid:
pubs:70996

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