Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy

OBJECTIVE: To characterize the genetic and clinical features of patients with autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) carrying duplication and deletion upstream of lamin B1 (LMNB1). METHODS: Ninety-three patients with adult-onset leukoencephalopathy of unknown etiology wer...

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Detalles Bibliográficos
Autores principales: Mezaki, Naomi, Miura, Takeshi, Ogaki, Kotaro, Eriguchi, Makoto, Mizuno, Yuri, Komatsu, Kenichi, Yamazaki, Hiroki, Suetsugi, Natsuki, Kawajiri, Sumihiro, Yamasaki, Ryo, Ishiguro, Takanobu, Konno, Takuya, Nozaki, Hiroaki, Kasuga, Kensaku, Okuma, Yasuyuki, Kira, Jun-Ichi, Hara, Hideo, Onodera, Osamu, Ikeuchi, Takeshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340331/
https://www.ncbi.nlm.nih.gov/pubmed/30697589
http://dx.doi.org/10.1212/NXG.0000000000000292

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