VARIABLE EXPRESSION IN SAMHD1 - ASSOCIATED FAMILIAL AICARDI-GOUTIERES SYNDROME

Autor: Glanzmann, Brigitte, Abraham, Deepthi R., Moller, Marlo, Glashoff, Richard, van Coller, Ansia, Uren, Caitlin, Durrheim, Glenda, Urban, Michael, Hoal, Eileen G., Esser, Monika M., Rice, Gillian, I, Crow, Yanick J., Kinnear, Craig J.

Publikováno v: Glanzmann, B, Abraham, D R, Moller, M, Glashoff, R, van Coller, A, Uren, C, Durrheim, G, Urban, M, Hoal, E G, Esser, M M, Rice, G I, Crow, Y J & Kinnear, C J 2018, ' VARIABLE EXPRESSION IN SAMHD1-ASSOCIATED FAMILIAL AICARDI-GOUTIERES SYNDROME ', Current Allergy & Clinical Immunology, vol. 31, no. 4, pp. 265-270 . < https://journals.co.za/docserver/fulltext/caci_v31_n4_a15.pdf?expires=1561562604&id=id&accname=guest&checksum=F989D0201A11CD9651E8A5C38856D8EE >

Aicardi-Goutières syndrome (AGS) is an encephalopathy of early childhood. This disorder is genetically heterogeneous, with mutations in seven genes having been identified to be disease-causing. Most patients with AGS present with poordevelopmental o

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https://www.research.manchester.ac.uk/portal/en/publications/variable-expression-in-samhd1--associated-familial-aicardigoutieres-syndrome(db1b4f02-8138-4b33-b6b7-948de64398a3).html

Additional file 1: of Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa

Autor: Kinnear, Craig, Glanzmann, Brigitte, Banda, Eric, Schlechter, Nikola, Durrheim, Glenda, Neethling, Annika, Nel, Etienne, Mardelle Schoeman, Johnson, Glynis, Helden, Paul Van, Hoal, Eileen, Esser, Monika, Urban, Michael, Mรถller, Marlo

Supplementary Tables. (DOCX 13 kb)

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Positive and negative modulation of H- ras transforming potential by mutations of phenylalanine-28.

Autor: Ricketts, Michael, Durrheim, Glenda, North, Honor, Merwe, Marthinus, Levinson, Arthur

Publikováno v: Molecular Biology Reports; Jun1996, Vol. 23 Issue 2, p109-117, 9p

Thymocyte activation induces the association of phosphatidylinositol 3-kinase and pp120 with CD5.

Autor: Dennehy, Kevin M., Broszeit, Richard, Garnett, David, Durrheim, Glenda A., Spruyt, Louise L., Beyers, Albert D.

Publikováno v: European Journal of Immunology; Mar1997, Vol. 27 Issue 3, p679-686, 8p