Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

OBJECTIVE: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is caused by mutations in CSF1R. Pathogenic mutations in exons 12–22 including coding sequence of the tyrosine kinase domain (TKD) of CSF1R were previously identified. We aimed to identify CSF1R mutations in p...

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محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:J Neurol
المؤلفون الرئيسيون: Miura, Takeshi, Mezaki, Naomi, Konno, Takuya, Iwasaki, Akio, Hara, Naoyuki, Miura, Masatomo, Funayama, Michitaka, Unai, Yuki, Tashiro, Yuichi, Okita, Kenji, Kihara, Takeshi, Ito, Nobuo, Kanatsuka, Yoichi, Jones, David T., Hara, Norikazu, Ishiguro, Takanobu, Tokutake, Takayoshi, Kasuga, Kensaku, Nozaki, Hiroaki, Dickson, Dennis W., Onodera, Osamu, Wszolek, Zbigniew K., Ikeuchi, Takeshi
التنسيق: Artigo
اللغة:Inglês
منشور في: Springer Berlin Heidelberg 2018
الموضوعات:
Original Communication
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC6182692/
https://ncbi.nlm.nih.gov/pubmed/30136118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-018-9017-2
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