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Article

Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing.

Pediatric neurology - 1 Mar 2012

Dündar Halil, Ozgül Rıza Köksal, Yalnızoğlu Dilek, Erdem Sevim, Oğuz Kader Karlı, Tuncel Deniz, Temuçin Cağrı Mesut, Dursun Ali

Abstract excerpt

Whole exome sequencing combined with homozygosity mapping comprises a genetic diagnostic tool to identify genetic defects in families with multiple affected members, compatible with presumed autosomal recessively inherited neurometabolic/neurogenetic disease. These tools were applied to a family...

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PMID: 22353293
DOI: 10.1016/j.pediatrneurol.2011.12.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22353293-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing.PMID 22353293Read ↗

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