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Genetics of human telomere biology disorders

Genetics of human telomere biology disorders

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04236536v1

Genetics of human telomere biology disorders

About this item

Full title

Genetics of human telomere biology disorders

Publisher

Nature Publishing Group

Journal title

Nature reviews. Genetics, 2023-01, Vol.20 (10), p.582-598

Language

English

Formats

Publication information

Publisher

Nature Publishing Group

More information

Scope and Contents

Contents

Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that prevent the activation of DNA damage response and repair pathways. Numerous factors localize at telomeres to regulate their length, structure and function, to avert replicative senescence or genome instability and cell death. In humans, Mendelian defects in se...

Alternative Titles

Full title

Genetics of human telomere biology disorders

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_hal_primary_oai_HAL_hal_04236536v1

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04236536v1

Other Identifiers

ISSN

1471-0056

E-ISSN

1471-0064

DOI

10.1038/s41576-022-00527-z

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