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Article

Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

Genomics - 1 Oct 1991

Gal A, Artlich A, Ludwig M, Niemeyer G, Olek K, Schwinger E, Schinzel A

Abstract excerpt

It has been shown recently that autosomal dominant retinitis pigmentosa may be caused by point mutations of the rhodopsin gene in a portion of families. In this communication, a large six-generation family with autosomal dominant RP is described. Molecular analysis by PCR amplification followed by restriction digestion or heteroduplex analysis suggested a point mutation in codon 347, in which two different...

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PMID: 1840561
DOI: 10.1016/0888-7543(91)90159-c

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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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