Identification and characterization of the gene for neurofibromatosis type 1
โ Scribed by White, Ray; Viskochil, David; O'Connell, Peter
- Book ID
- 123146229
- Publisher
- Elsevier Science
- Year
- 1991
- Tongue
- English
- Weight
- 813 KB
- Volume
- 1
- Category
- Article
- ISSN
- 0959-4388
No coin nor oath required. For personal study only.
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We studied 20 unrelated NF1 patients by Southern blots with seven cDNA probes and loss of heterozygosity (LOH) analysis with four intragenic microsatellites (IVS26-2.3, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0). Four novel large deletions (178, 184, 236, and 237) have been identified and characteri
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by abnormalities of tissues predominantly derived from the neural crest. Symptoms are highly variable and severity cannot be predicted, even within families. DNA of 84 unrelated patients with NF1, unselected for clinical