A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21

Autor: Lieven Lagae, Isabelle Desguerre, D. Cau, Didier Lacombe, Pierre Lebon, Andrew P. Jackson, B.C.J. Hamel, J.H.L.M. van Bokhoven, Uta Tacke, Cyril Goizet, Christopher D. Rittey, L.J. Highet, Amparo Sanchis, Yanick J. Crow, N. Mathieu, H.G. Brunner, Marie-Laure Moutard, M.S. van der Knaap, Y.A. Oade, Manir Ali, Mary D. King, Dhavendra Kumar

Publikováno v: Journal of Medical Genetics, 43, 444-50
Journal of Medical Genetics, 43, 5, pp. 444-50
Journal of Medical Genetics, 43(5), 444-450. BMJ Publishing Group
Ali, M, Highet, L J, Lacombe, D, Goizet, C, King, M D, Tacke, U, Van Der Knaap, M S, Lagae, L, Rittey, C, Brunner, H G, Van Bokhoven, H, Hamel, B, Oade, Y A, Sanchis, A, Desguerre, I, Cau, D, Mathieu, N, Moutard, M L, Lebon, P, Kumar, D, Jackson, A P & Crow, Y J 2006, ' A second locus for Aicardi-Goutières syndrome at chromosome 13q14-21 ', Journal of Medical Genetics, vol. 43, no. 5, pp. 444-450 . https://doi.org/10.1136/jmg.2005.031880

Contains fulltext : 51263.pdf (Publisher’s version ) (Closed access) BACKGROUND: Aicardi-Goutieres syndrome (AGS) is an autosomal recessive, early onset encephalopathy characterised by calcification of the basal ganglia, chronic cerebrospinal fluid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede71906b393c0b7eb0b8fb640cd95aa
https://doi.org/10.1136/jmg.2005.031880

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.