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The effect of parental age on the presence of de novo mutations – Lessons from neurofibromatosis type I

BACKGROUND: Neurofibromatosis type 1 (NF1) is the most common autosomal dominant neurocutaneous disease with a prevalence of 1:2500. Approximately, 50% of the cases are sporadic. Advanced paternal age is associated with germline mutations and autosomal diseases. We aimed to use NF1 as a paradigm to...

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Detalles Bibliográficos
Autores principales: Dubov, Tom, Toledano‐Alhadef, Hagit, Bokstein, Felix, Constantini, Shlomi, Ben‐Shachar, Shay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947867/
https://www.ncbi.nlm.nih.gov/pubmed/27468422
http://dx.doi.org/10.1002/mgg3.222