Deletion of the Telomerase Reverse Transcriptase Gene and Haploinsufficiency of Telomere Maintenance in Cri du Chat Syndrome

Cri du chat syndrome (CdCS) results from loss of the distal portion of chromosome 5p, where the telomerase reverse transcriptase (hTERT) gene is localized (5p15.33). hTERT is the rate-limiting component for telomerase activity that is essential for telomere-length maintenance and sustained cell prol...

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Autores principales: Zhang, Anju, Zheng, Chengyun, Hou, Mi, Lindvall, Charlotta, Li, Ke-Jun, Erlandsson, Fredrik, Björkholm, Magnus, Gruber, Astrid, Blennow, Elisabeth, Xu, Dawei
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2003
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180356/
https://ncbi.nlm.nih.gov/pubmed/12629597
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