Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Li...
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis
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England: BioMed Central Ltd
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English
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Publisher
England: BioMed Central Ltd
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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. Owing to the complexity in some parts of clinical diagnoses a...
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Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis
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TN_cdi_doaj_primary_oai_doaj_org_article_59883e3a47e649c9b7a2d544f41933ec
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_59883e3a47e649c9b7a2d544f41933ec
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ISSN
1423-0127,1021-7770
E-ISSN
1423-0127
DOI
10.1186/s12929-018-0474-9
