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Article

Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden.

Advances in experimental medicine and biology - 1 Jan 2010

Golovleva Irina, Köhn Linda, Burstedt Marie, Daiger Stephen, Sandgren Ola

Abstract excerpt

Retinal degenerations represent a heterogeneous group of disorders affecting the function of the retina. The frequency of retinitis pigmentosa (RP) is 1/3500 worldwide, however, in northern Sweden it is 1/2000 due to limited migration and a 'founder' effect. In this study we identified genetic mechanisms underlying autosomal dominant and recessive RP present in northern Sweden. Several novel mutations unique for...

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Source

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Identifiers

PMID: 20238024
DOI: 10.1007/978-1-4419-1399-9_29
PMCID: PMC4113316

Genes

PRPF31
RLBP1

Variants

Provenance

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