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Autor:
Sarah Fazal, Matt C Danzi, André B P van Kuilenburg, Selina Reich, Andreas Traschütz, Benjamin Bender, René Leen, Camilo Toro, Karen Usdin, Bruce Hayward, David R Adams, Clara D M van Karnebeek, Carlos R Ferreira, Precilla D’Sousa, Undiagnosed Diseases Network, Mustafa Tekin, Stephan Züchner, Matthis Synofzik
Publikováno v:
Human molecular genetics 32(1), 46-54 (2023). doi:10.1093/hmg/ddac173
Human molecular genetics, 32(1), 46-54. Oxford University Press
Human molecular genetics, 32(1), 46-54. Oxford University Press
Glutaminase deficiency has recently been associated with ataxia and developmental delay due to repeat expansions in the 5′UTR of the glutaminase (GLS) gene. Patients with the described GLS repeat expansion may indeed remain undiagnosed due to the r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de019e5e3fcd9c31a84a5673f0719a6c