Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features

OBJECTIVE: To investigate the possible involvement of germline mutations in a neurologic condition involving diffuse white matter lesions. METHODS: The patients were 3 siblings born to healthy parents. We performed homozygosity mapping, whole-exome sequencing, site-directed mutagenesis, and immunobl...

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Detalles Bibliográficos
Autores principales: Ziaei, Amin, Xu, Xiaohong, Dehghani, Leila, Bonnard, Carine, Zellner, Andreas, Jin Ng, Alvin Yu, Tohari, Sumanty, Venkatesh, Byrappa, Haffner, Christof, Reversade, Bruno, Shaygannejad, Vahid, Pouladi, Mahmoud A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659136/
https://www.ncbi.nlm.nih.gov/pubmed/31403081
http://dx.doi.org/10.1212/NXG.0000000000000345

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