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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...

詳細記述

保存先:
書誌詳細
主要な著者: Zhang, Anju, Zheng, Chengyun, Hou, Mi, Lindvall, Charlotta, Li, Ke-Jun, Erlandsson, Fredrik, Björkholm, Magnus, Gruber, Astrid, Blennow, Elisabeth, Xu, Dawei
フォーマット: Artigo
言語:Inglês
出版事項: The American Society of Human Genetics 2003
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180356/
https://ncbi.nlm.nih.gov/pubmed/12629597
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