Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS

OBJECTIVE: To clarify the genetic, clinicopathologic, and neuroimaging characteristics of patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS) with the colony stimulating factor 1 receptor (CSF-1R) mutation. METHODS: We performed molecular genetic analysis of CSF-1R in patients...

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Detalles Bibliográficos
Autores principales: Konno, Takuya, Tada, Masayoshi, Tada, Mari, Koyama, Akihide, Nozaki, Hiroaki, Harigaya, Yasuo, Nishimiya, Jin, Matsunaga, Akiko, Yoshikura, Nobuaki, Ishihara, Kenji, Arakawa, Musashi, Isami, Aiko, Okazaki, Kenichi, Yokoo, Hideaki, Itoh, Kyoko, Yoneda, Makoto, Kawamura, Mitsuru, Inuzuka, Takashi, Takahashi, Hitoshi, Nishizawa, Masatoyo, Onodera, Osamu, Kakita, Akiyoshi, Ikeuchi, Takeshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937843/
https://www.ncbi.nlm.nih.gov/pubmed/24336230
http://dx.doi.org/10.1212/WNL.0000000000000046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937843/
https://www.ncbi.nlm.nih.gov/pubmed/24336230
http://dx.doi.org/10.1212/WNL.0000000000000046

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