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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Veröffentlicht in:	American journal of human genetics Jg. 109; H. 8; S. 1472
Hauptverfasser:	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
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States 04.08.2022
Schlagworte:	Dyskeratosis Congenita - genetics Germ Cells Heterozygote Humans Nucleotides Thymidylate Synthase - deficiency Thymidylate Synthase - genetics dyskeratosis congenita gene epistasis TYMS nucleotide metabolism ENOSF1
ISSN:	1537-6605, 1537-6605
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