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Diffusion of information about neurofibromatosis type 1 DNA testing

✍ Scribed by Hofman, Karen J.

Book ID
101445326
Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
380 KB
Volume
49
Category
Article
ISSN
0148-7299

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Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders in humans with an incidence of 1 in 3500. Most of the NF1 mutations reported so far (over 240 mutations) are unique. Specific prenatal diagnosis can only be provided to familial cases by an indirect linkage analysis or to fam