Cargando…
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...
| Clasificación: | Libro Electrónico |
|---|---|
| Autor Corporativo: | |
| Otros Autores: | , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2012.
|
| Edición: | 1st ed. 2012. |
| Temas: | |
| Acceso en línea: | Texto Completo |
Tabla de Contenidos:
- 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.