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Article

Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Dec 1994

Nakazawa M, Kikawa E, Kamio K, Chida Y, Shiono T, Tamai M

Abstract excerpt

OBJECTIVE: To identify phenotypic characteristics of a certain mutation in the peripherin/RDS gene. DESIGN: Case reports with clinical features and results of fluorescein angiography, electroretinography, kinetic visual field testing, dark adaptometry, and DNA analysis. SETTING: University medical center. PATIENTS: We studied the ocular findings in eight members of a Japanese family with autosomal dominant...

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PMID: 7993211
DOI: 10.1001/archopht.1994.01090240073028

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Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene.PMID 7993211Read ↗

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Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

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