Neurofibromatosis Type 1 Molecular and Cellular Biology /
Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state...
Συγγραφή απο Οργανισμό/Αρχή: | |
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Άλλοι συγγραφείς: | , |
Μορφή: | Ηλεκτρονική πηγή Ηλ. βιβλίο |
Γλώσσα: | English |
Έκδοση: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2012.
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Θέματα: | |
Διαθέσιμο Online: | Full Text via HEAL-Link |
Πίνακας περιεχομένων:
- 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.