Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells

Causative genes in patients with idiopathic basal ganglia calcification (IBGC) (also called primary familial brain calcification (PFBC)) have been reported in the past several years. In this study, we surveyed the clinical and neuroimaging data of 70 sporadic patients and 16 families (86 unrelated p...

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Detalles Bibliográficos
Autores principales: Sekine, Shin-ichiro, Kaneko, Masayuki, Tanaka, Masaki, Ninomiya, Yuhei, Kurita, Hisaka, Inden, Masatoshi, Yamada, Megumi, Hayashi, Yuichi, Inuzuka, Takashi, Mitsui, Jun, Ishiura, Hiroyuki, Iwata, Atsushi, Fujigasaki, Hiroto, Tamaki, Hisamitsu, Tamaki, Ryusei, Kito, Shinsuke, Taguchi, Yoshiharu, Tanaka, Kortaro, Atsuta, Naoki, Sobue, Gen, Kondo, Takayuki, Inoue, Haruhisa, Tsuji, Shoji, Hozumi, Isao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450963/
https://www.ncbi.nlm.nih.gov/pubmed/30952898
http://dx.doi.org/10.1038/s41598-019-42115-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450963/
https://www.ncbi.nlm.nih.gov/pubmed/30952898
http://dx.doi.org/10.1038/s41598-019-42115-y

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