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Article

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20.

Human molecular genetics - 15 Dec 2008

Knight Melanie A, Hernandez Dena, Diede Scott J, Dauwerse Hans G, Rafferty Ian, van de Leemput Joyce, Forrest Susan M, Gardner R J McKinlay, Storey Elsdon, van Ommen Gert-Jan B, Tapscott Stephen J, Fischbeck Kenneth H, Singleton Andrew B

Abstract excerpt

Spinocerebellar ataxia type 20 (SCA20) has been linked to chromosome 11q12, but the underlying genetic defect has yet to be identified. We applied single-nucleotide polymorphism genotyping to detect structural alterations in the genomic DNA of patients with SCA20. We found a 260 kb duplication within the previously linked SCA20 region, which was confirmed by quantitative polymerase chain reaction and fiber...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18801880
DOI: 10.1093/hmg/ddn283
PMCID: PMC2588641

Genes

DAGLA

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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