A second locus for Aicardi‐Goutières syndrome at chromosome 13q14–21

BACKGROUND: Aicardi‐Goutières syndrome (AGS) is an autosomal recessive, early onset encephalopathy characterised by calcification of the basal ganglia, chronic cerebrospinal fluid lymphocytosis, and negative serological investigations for common prenatal infections. AGS may result from a perturbatio...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2649012/
https://ncbi.nlm.nih.gov/pubmed/15908569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.031880
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