Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

Dyskeratosis congenita (DC) is an inherited bone-marrow-failure disorder characterized by a triad of mucocutaneous features that include abnormal skin pigmentation, nail dystrophy, and oral leucoplakia. Despite the identification of several genetic variants that cause DC, a significant proportion of...

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Detalles Bibliográficos
Autores principales: Tummala, Hemanth, Walne, Amanda, Buccafusca, Roberto, Alnajar, Jenna, Szabo, Anita, Robinson, Peter, McConkie-Rosell, Allyn, Wilson, Meredith, Crowley, Suzanne, Kinsler, Veronica, Ewins, Anna-Maria, Madapura, Pradeepa M., Patel, Manthan, Pontikos, Nikolas, Codd, Veryan, Vulliamy, Tom, Dokal, Inderjeet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9388389/
https://www.ncbi.nlm.nih.gov/pubmed/35931051
http://dx.doi.org/10.1016/j.ajhg.2022.06.014

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