Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy

OBJECTIVE: Clinical, radiologic, and molecular analysis of patients with genomic deletions upstream of the LMNB1 gene. METHODS: Detailed neurologic, MRI examinations, custom array comparative genomic hybridization (aCGH) analysis, and expression analysis were performed in patients at different clini...

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Detalles Bibliográficos
Autores principales: Nmezi, Bruce, Giorgio, Elisa, Raininko, Raili, Lehman, Anna, Spielmann, Malte, Koenig, Mary Kay, Adejumo, Rahmat, Knight, Melissa, Gavrilova, Ralitza, Alturkustani, Murad, Sharma, Manas, Hammond, Robert, Gahl, William A., Toro, Camilo, Brusco, Alfredo, Padiath, Quasar S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384018/
https://www.ncbi.nlm.nih.gov/pubmed/30842973
http://dx.doi.org/10.1212/NXG.0000000000000305

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384018/
https://www.ncbi.nlm.nih.gov/pubmed/30842973
http://dx.doi.org/10.1212/NXG.0000000000000305

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