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Article

Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene.

Ophthalmology - 1 Dec 1991

Stone E M, Kimura A E, Nichols B E, Khadivi P, Fishman G A, Sheffield V C

Abstract excerpt

Mutations in the rhodopsin gene are associated with as many as one quarter of all cases of autosomal dominant retinitis pigmentosa (RP). A number of different rhodopsin mutations have been reported but only the proline to histidine mutation in codon 23 (Pro-23-His) has been well characterized clinically. One recent report described a "sectoral" distribution of the retinal degeneration associated with this...

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Identifiers

PMID: 1775314
DOI: 10.1016/s0161-6420(91)32046-3

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Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene.PMID 1775314Read ↗

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Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation.Semantic proximity Read ↗

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