Document Detail

Detection of an unstable non-coding tandem repeat in the ZNF291 gene.
MedLine Citation:
PMID:  17553665     Owner:  NLM     Status:  MEDLINE    
Repeat instability is an important form of mutation that is responsible for several neurological, neurodegenerative and neuromuscular disorders. In this study we identified an unstable [CCTG](n) repeat in the second intron of the ZNF291 gene, on chromosome 15q21-24. The repeat number is polymorphic in normal population and the ZNF291 transcript is expressed in different areas of human brain, skeletal muscle and heart. These findings suggest that ZNF291 gene should be taken in consideration as an attractive candidate for neuromuscular expansion related diseases mapping in this locus.
Vallo Laura; Bonifazi Emanuela; Angelini Corrado; Novelli Giuseppe; Botta Annalisa
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-04-21
Journal Detail:
Title:  Molecular and cellular probes     Volume:  21     ISSN:  0890-8508     ISO Abbreviation:  Mol. Cell. Probes     Publication Date:    2007 Oct-Dec
Date Detail:
Created Date:  2007-08-21     Completed Date:  2007-12-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8709751     Medline TA:  Mol Cell Probes     Country:  England    
Other Details:
Languages:  eng     Pagination:  405-7     Citation Subset:  IM    
Dipartimento di Biopatologia e Diagnostica per Immagini, Facoltà di Medicina e Chirurgia, Università di Roma "Tor Vergata", 00133 Roma, Italy.
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MeSH Terms
Carrier Proteins / genetics*,  metabolism
Gene Expression Profiling
Gene Expression Regulation
RNA, Messenger / genetics,  metabolism
Tandem Repeat Sequences / genetics*
Reg. No./Substance:
0/Carrier Proteins; 0/RNA, Messenger; 0/SCAPER protein, human

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