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

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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Bibliographic Details
Main Authors: D.G. Evans, N. Bowers, E. Burkitt-Wright, E. Miles, S. Garg, V. Scott-Kitching, M. Penman-Splitt, A. Dobbie, E. Howard, J. Ealing, G. Vassalo, A.J. Wallace, W. Newman, S.M. Huson
Format: Article
Language:English
Published: Elsevier 2016-05-01
Series:EBioMedicine
Subjects:
RNA
NF1
Splicing mutation
Deep intronic
Legius
SPRED1
Café au lait
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396416301402

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