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Article

Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability.

Human mutation - 1 Sept 2004

Sobczak Krzysztof, Krzyzosiak Wlodzimierz J

Abstract excerpt

About 3% of the human genome is composed of simple sequence repeats and many of these sequences occur within genes. These repeats are often polymorphic in a normal population and their expansion in specific genes leads to a number of hereditary neurological diseases. Normal variants of disease-related genes contain either pure or interrupted repeats, and the postulated function of the interruptions is to prevent...

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PMID: 15300851
DOI: 10.1002/humu.20075

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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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