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Article

Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.

Genomics - 1 Nov 1995

Danciger M, Blaney J, Gao Y Q, Zhao D Y, Heckenlively J R, Jacobson S G, Farber D B

Abstract excerpt

We have studied 24 small families with presumed autosomal recessive inheritance of retinitis pigmentosa by a combination of haplotype analysis and exon screening. Initial analysis of the families was made with a dinucleotide repeat polymorphism adjacent to the gene for rod cGMP-phosphodiesterase (PDE6B). This was followed by denaturing gradient gel electrophoresis (DGGE) and single-strand conformation...

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Identifiers

PMID: 8595886
DOI: 10.1006/geno.1995.0001

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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