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Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.

Publication ,  Journal Article
Tummala, H; Walne, A; Buccafusca, R; Alnajar, J; Szabo, A; Robinson, P; McConkie-Rosell, A; Wilson, M; Crowley, S; Kinsler, V; Ewins, A-M ...
Published in: Am J Hum Genet
July 11, 2024

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Published In

Am J Hum Genet

DOI

EISSN

1537-6605

Publication Date

July 11, 2024

Volume

111

Issue

7

Start / End Page

1494

Location

United States

Related Subject Headings

  • Genetics & Heredity
  • 42 Health sciences
  • 32 Biomedical and clinical sciences
  • 31 Biological sciences
  • 11 Medical and Health Sciences
  • 06 Biological Sciences
 

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Tummala, H., Walne, A., Buccafusca, R., Alnajar, J., Szabo, A., Robinson, P., … Dokal, I. (2024). Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita. Am J Hum Genet, 111(7), 1494. https://doi.org/10.1016/j.ajhg.2024.05.022
Tummala, Hemanth, Amanda Walne, Roberto Buccafusca, Jenna Alnajar, Anita Szabo, Peter Robinson, Allyn McConkie-Rosell, et al. “Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.Am J Hum Genet 111, no. 7 (July 11, 2024): 1494. https://doi.org/10.1016/j.ajhg.2024.05.022.
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, et al. Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita. Am J Hum Genet. 2024 Jul 11;111(7):1494.
Tummala, Hemanth, et al. “Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.Am J Hum Genet, vol. 111, no. 7, July 2024, p. 1494. Pubmed, doi:10.1016/j.ajhg.2024.05.022.
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins A-M, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I. Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita. Am J Hum Genet. 2024 Jul 11;111(7):1494.
Journal cover image

Published In

Am J Hum Genet

DOI

EISSN

1537-6605

Publication Date

July 11, 2024

Volume

111

Issue

7

Start / End Page

1494

Location

United States

Related Subject Headings

  • Genetics & Heredity
  • 42 Health sciences
  • 32 Biomedical and clinical sciences
  • 31 Biological sciences
  • 11 Medical and Health Sciences
  • 06 Biological Sciences