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Neurofibromatosis Type 1

Neurofibromatosis Type 1


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International Edition


About the Book

From the Contents: von Recklinghausen disease.- Clinical diagnosis and atypical cases.- Management and treatment of NF1: complex UK NF1 clinics.- Mortality in NF1.- The cognitive profile of NF1 children, therapeutic implications.- Clinical expression of NF1 in monozygotic twins.- Whole body MRI studies in NF1 patients.- Quality of Life in NF1.- NF1 gene: promoter, 3'UTR and complex features.- Germline mutational spectrum of NF1 and Genotype-Phenotype Correlations.- Splicing mechanisms and mutations in the NF1 gene.- NF1 Germline and somatic mosaicism.- Deep intronic NF1 mutations and possible therapeutic interventions.- NF1 microdeletions and mutational mechanisms.- NF1 somatic mutational spectrum.- Social Stigma in NF1.- Personalized Medicine in NF1.- Future Directions - Where do we go from here.


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Product Details
  • ISBN-13: 9783662507179
  • Publisher: Springer
  • Binding: Paperback
  • Height: 234 mm
  • No of Pages: 717
  • Series Title: English
  • Sub Title: Molecular and Cellular Biology
  • Width: 156 mm
  • ISBN-10: 366250717X
  • Publisher Date: 23 Aug 2016
  • Edition: Softcover reprint of the original 1st ed. 2012
  • Language: English
  • Returnable: N
  • Spine Width: 37 mm
  • Weight: 1065 gr


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