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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Bibliographic Details
Published in:Neurol Genet
Main Authors: 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.
Format: Artigo
Language:Inglês
Published: Wolters Kluwer 2019
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6384018/
https://ncbi.nlm.nih.gov/pubmed/30842973
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000305
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