Title : SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6.

Pub. Date : 2003 Aug

PMID : 12891385






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The expanded polyglutamine domain in both TBP copies is not correlated with embryonic death indicating that the normal function of the protein is not disrupted by this kind of mutation but may account for the dementia seen in this patient. polyglutamine TATA-box binding protein Homo sapiens