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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Zhang, Anju, Zheng, Chengyun, Hou, Mi, Lindvall, Charlotta, Li, Ke-Jun, Erlandsson, Fredrik, Björkholm, Magnus, Gruber, Astrid, Blennow, Elisabeth, Xu, Dawei
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The American Society of Human Genetics 2003
Pynciau:
Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180356/
https://ncbi.nlm.nih.gov/pubmed/12629597
Tagiau: Ychwanegu Tag
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