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Article

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.

European journal of human genetics : EJHG - 1 Mar 2001

Zühlke C, Hellenbroich Y, Dalski A, Kononowa N, Hagenah J, Vieregge P, Riess O, Klein C, Schwinger E

Abstract excerpt

A novel neurological syndrome has recently been described to be associated with an expanded polyglutamine domain. The expansion results from partial duplication within the TATA-binding protein (TBP). By investigation of 604 sporadic and familial cases with various forms of neurological syndromes and 157 unaffected individuals, we found repeat expansions in the TBP in four patients of two families with autosomal...

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Identifiers

PMID: 11313753
DOI: 10.1038/sj.ejhg.5200617

Genes

TBP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.PMID 11313753Read ↗

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