## Abstract The neurofibromatosis type 1 gene has one of the highest mutation rates in humans: about 50% of NF1 patients are de novo cases. Although direct mutation characterization has greatly improved over the past decade, in the context of clinical genetics services worldwide, there is still a s
Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing
✍ Scribed by F.B. Müller; I. Haußer; D. Berg; C. Casper; R. Maiwald; A. Jung; H. Jung; B.P. Korge
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 232 KB
- Volume
- 146
- Category
- Article
- ISSN
- 0007-0963
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