Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing

Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder caused by mutations in the NF1 gene. One of the hallmarks of NF1 is the high mutation rate in this gene. In this study, we present 127 different NF1 mutations and 54 novel mutations detected at both the genomic DNA and mR...

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Detalles Bibliográficos
Autores principales: XU, WEIHONG, YANG, XIAO, HU, XIAOXIA, LI, SHIBO
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2014
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4072343/
https://www.ncbi.nlm.nih.gov/pubmed/24789688
http://dx.doi.org/10.3892/ijmm.2014.1756

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4072343/
https://www.ncbi.nlm.nih.gov/pubmed/24789688
http://dx.doi.org/10.3892/ijmm.2014.1756

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