Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

BACKGROUND: The detection rate for identifying the underlying mutation in neurocutaneous syndromes is affected by the sensitivity of the mutation test and the heterogeneity of the disease based on the diagnostic criteria. Neurofibromatosis type (NF1) has been defined for 29 years by the National Ins...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:EBioMedicine
Main Authors: Evans, D.G., Bowers, N., Burkitt-Wright, E., Miles, E., Garg, S., Scott-Kitching, V., Penman-Splitt, M., Dobbie, A., Howard, E., Ealing, J., Vassalo, G., Wallace, A.J., Newman, W., Huson, S.M.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2016
Teme:
Research Paper
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4909377/
https://ncbi.nlm.nih.gov/pubmed/27322474
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebiom.2016.04.005
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