Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis

BACKGROUND: Neurofibromatosis type 1 (NF1) is a dominantly inherited tumor predisposition syndrome that targets the peripheral nervous system. It is caused by mutations of the NF1 gene which serve as a negative regulator of the cellular Ras/MAPK (mitogen-activated protein kinases) signaling pathway....

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Detalles Bibliográficos
Autores principales: Wu-Chou, Yah-Huei, Hung, Tzu-Chao, Lin, Yin-Ting, Cheng, Hsing-Wen, Lin, Ju-Li, Lin, Chih-Hung, Yu, Chung-Chih, Chen, Kuo-Ting, Yeh, Tu-Hsueh, Chen, Yu-Ray
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6172719/
https://www.ncbi.nlm.nih.gov/pubmed/30290804
http://dx.doi.org/10.1186/s12929-018-0474-9

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