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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Bibliografiska uppgifter
I publikationen:J Neurol
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer Berlin Heidelberg 2018
Ämnen:
Original Communication
Länkar: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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