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Article

Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa.

PloS one - 1 Jan 2015

Bujakowska Kinga M, White Joseph, Place Emily, Consugar Mark, Comander Jason

Abstract excerpt

BACKGROUND: Next generation sequencing (NGS) offers a rapid and comprehensive method of screening for mutations associated with retinitis pigmentosa and related disorders. However, certain sequence alterations such as large insertions or deletions may remain undetected using standard NGS pipelines. One such mutation is a recently-identified Alu insertion into the Male Germ Cell-Associated Kinase (MAK) gene, which...

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Share to Alu Elements
Share to Genetic Loci
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutagenesis, Insertional

Share to Protein Serine-Threonine Kinases

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Source

Open in PubMed Open full text

Identifiers

PMID: 26558903
DOI: 10.1371/journal.pone.0142614
PMCID: PMC4641726

Genes

MAK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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