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Article

Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations.

Ophthalmology - 1 Sept 1996

Pannarale M R, Grammatico B, Iannaccone A, Forte R, DeBernardo C, Flagiello L, Vingolo E M, Del Porto G

Abstract excerpt

PURPOSE: To report the clinical and functional characteristics of patients affected with autosomal-dominant transmitted retinitis pigmentosa (adRP) from a large Italian pedigree in which a point mutation predicting the Arg-135-Trp change of rhodopsin was identified by polymerase chain reaction-single-strand conformation polymorphism analysis. METHODS: Seven patients, ranging in age from 6 to 41 years, underwent a...

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PMID: 8841304
DOI: 10.1016/s0161-6420(96)30485-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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