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Article

Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.

European journal of human genetics : EJHG - 1 May 2009

Köhn Linda, Bowne Sara J, S Sullivan Lori, Daiger Stephen P, Burstedt Marie S I, Kadzhaev Konstantin, Sandgren Ola, Golovleva Irina

Abstract excerpt

The aim of this study was to identify and characterize the underlying molecular mechanisms in autosomal-dominant retinitis pigmentosa (adRP) with incomplete penetrance in two Swedish families. An extended genealogical study and haplotype analysis indicated a common origin. Mutation identification was carried out by multiplex ligation-dependent probe amplification (MLPA) and sequencing. Clinical examinations of...

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Source

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Identifiers

PMID: 19050727
DOI: 10.1038/ejhg.2008.223
PMCID: PMC2796252

Genes

PRPF31

Provenance

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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