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Mutations in the telomere capping complex in bone marrow failure and related syndromes

Dyskeratosis congenita and its variants have overlapping phenotypes with many disorders including Coats plus, and their underlying pathology is thought to be one of defective telomere maintenance. Recently, biallelic CTC1 mutations have been described in patients with syndromes overlapping Coats plu...

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Detalhes bibliográficos
Main Authors: Walne, Amanda J., Bhagat, Tanya, Kirwan, Michael, Gitiaux, Cyril, Desguerre, Isabelle, Leonard, Norma, Nogales, Elena, Vulliamy, Tom, Dokal, Inderjeet S.
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3659926/
https://ncbi.nlm.nih.gov/pubmed/22899577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2012.071068
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