The telomere syndromes
The telomere syndromes
About this item
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Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
Key Points
Mutations in telomerase and telomere gene components manifest as diverse clinical syndromes that vary in severity but share a single common molecular defect of shortened telomeres.
Telomere length determines disease severity and type in the monogenic telomere syndromes. This is most evidently seen in the pattern of genetic anticipa...
Alternative Titles
Full title
The telomere syndromes
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3548426
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3548426
Other Identifiers
ISSN
1471-0056
E-ISSN
1471-0064
DOI
10.1038/nrg3246
