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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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| Publicado no: | Neurol Genet |
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| Main Authors: | , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6659136/ https://ncbi.nlm.nih.gov/pubmed/31403081 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000345 |
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