Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations

Aicardi-Goutières syndrome (AGS) is a rare, genetically determined early-onset progressive encephalopathy. To date, mutations in six genes have been identified as etiologic for AGS. Our Japanese nationwide AGS survey identified six AGS-affected individuals without a molecular diagnosis; we performed...

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Bibliografische gegevens
Hoofdauteurs: Oda, Hirotsugu, Nakagawa, Kenji, Abe, Junya, Awaya, Tomonari, Funabiki, Masahide, Hijikata, Atsushi, Nishikomori, Ryuta, Funatsuka, Makoto, Ohshima, Yusei, Sugawara, Yuji, Yasumi, Takahiro, Kato, Hiroki, Shirai, Tsuyoshi, Ohara, Osamu, Fujita, Takashi, Heike, Toshio
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2014
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4085581/
https://ncbi.nlm.nih.gov/pubmed/24995871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.06.007
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