A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding
| Autor: | Suneet Agarwal, Courtney M. Bellomo, Corey Cutler, Baris Boyraz, Mark D. Fleming |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Genetics RNA metabolism Mutation Degenerative Disorder Immunology Letters to Blood Cell Biology Hematology Plasma protein binding Disease Biology medicine.disease_cause medicine.disease Biochemistry Telomere 03 medical and health sciences 030104 developmental biology 0302 clinical medicine 030220 oncology & carcinogenesis medicine Gene Dyskeratosis congenita |
| Zdroj: | Blood. 128:2089-2092 |
| ISSN: | 1528-0020 0006-4971 |
| DOI: | 10.1182/blood-2016-04-710160 |
| Popis: | To the editor: Mutations in genes involved in telomere maintenance are implicated in a broad range of degenerative disorders collectively known as telomere diseases.[1][1],[2][2] Their clinical presentations extend from severe childhood syndromes such as dyskeratosis congenita (DC) to later-onset |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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