Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations

Neurofibromatosis type 1 (NF1) is a common neurodevelopmental disorder caused by a spectrum of distinct germline NF1 gene mutations, traditionally viewed as equivalent loss-of-function alleles. To specifically address the issue of mutational equivalency in a disease with considerable clinical hetero...

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Detalles Bibliográficos
Autores principales: Anastasaki, Corina, Wegscheid, Michelle L., Hartigan, Kelly, Papke, Jason B., Kopp, Nathan D., Chen, Jiayang, Cobb, Olivia, Dougherty, Joseph D., Gutmann, David H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160375/
https://www.ncbi.nlm.nih.gov/pubmed/32243842
http://dx.doi.org/10.1016/j.stemcr.2020.03.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160375/
https://www.ncbi.nlm.nih.gov/pubmed/32243842
http://dx.doi.org/10.1016/j.stemcr.2020.03.007

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