Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma
✍ Scribed by Tommy Martinsson; Rose-Marie Sjöberg; Fredrik Hedborg; Per Kogner
- Book ID
- 114136120
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 1023 KB
- Volume
- 95
- Category
- Article
- ISSN
- 0165-4608
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## Abstract Neurofibromatosis type 1 (NF1) patients are susceptible to tumor development. In the present study we describe a child with NF1 and disseminated neuroblastoma whose death resulted from disease progression. The mother had café‐au‐lait spots suggesting a familial NF1. Neuroblastoma cells
## Communicated by Michael Goossens A total of 500 unselected unrelated neurofibromatosis 1 (NF1) patients were screened for deletions of the NF1 gene. After excluding 67 patients with known intragenic NF1 mutations, the remaining 433 were genotyped using six intragenic and one distal microsatellit