The evolving genetic landscape of telomere biology disorder dyskeratosis congenita
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita
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Author / Creator
Tummala, Hemanth , Walne, Amanda J , Badat, Mohsin , Patel, Manthan , Walne, Abigail M , Alnajar, Jenna , Chow, Chi Ching , Albursan, Ibtehal , Frost, Jennifer M , Ballard, David , Killick, Sally , Szitányi, Peter , Kelly, Anne M , Raghavan, Manoj , Powell, Corrina , Raymakers, Reinier , Todd, Tony , Mantadakis, Elpis , Polychronopoulou, Sophia , Pontikos, Nikolas , Liao, Tianyi , Madapura, Pradeep , Hossain, Upal , Vulliamy, Tom and Dokal, Inderjeet
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome, caused by genetic mutations that principally affect telomere biology. Approximately 35% of cases remain uncharacterised at the genetic level. To explore the genetic landscape, we conducted genetic studies on a large collection of clinically diagnosed cases of DC as well a...
Alternative Titles
Full title
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita
Authors, Artists and Contributors
Author / Creator
Walne, Amanda J
Badat, Mohsin
Patel, Manthan
Walne, Abigail M
Alnajar, Jenna
Chow, Chi Ching
Albursan, Ibtehal
Frost, Jennifer M
Ballard, David
Killick, Sally
Szitányi, Peter
Kelly, Anne M
Raghavan, Manoj
Powell, Corrina
Raymakers, Reinier
Todd, Tony
Mantadakis, Elpis
Polychronopoulou, Sophia
Pontikos, Nikolas
Liao, Tianyi
Madapura, Pradeep
Hossain, Upal
Vulliamy, Tom
Dokal, Inderjeet
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_a5c1a71362e94f24b64c6893fb53d636
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a5c1a71362e94f24b64c6893fb53d636
Other Identifiers
ISSN
1757-4684,1757-4676
E-ISSN
1757-4684
DOI
10.1038/s44321-024-00118-x
