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Article

NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies.

European journal of human genetics : EJHG - 1 Oct 2000

Bessant D A, Payne A M, Plant C, Bird A C, Swaroop A, Bhattacharya S S

Abstract excerpt

The aim of this work was to identify NRL mutations in a panel of 200 autosomal dominant retinitis pigmentosa (adRP) families. All samples were subjected to heteroduplex analysis of the three exons of the NRL gene, and HphI restriction digest analysis of exon 2 (to identify the S50T mutation). Families found to have the S50T mutation, and six additional larger pedigrees (which had previously been excluded from the...

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Source

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PMID: 11039579
DOI: 10.1038/sj.ejhg.5200538

Genes

NRL

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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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