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FC101 Microsatellite alterations in type 1 neurofibromatosis-NF1

✍ Scribed by A. Richetta; S. Giustini; B. Amorosi; C. Canci; V. Silipo; L. Occhini; R.Mariani Costantini; S. Calvieri


Book ID
118604385
Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
125 KB
Volume
9
Category
Article
ISSN
0926-9959

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NF1 microdeletions in neurofibromatosis
✍ Eric Pasmant; Audrey Sabbagh; Gill Spurlock; Ingrid Laurendeau; Elisa Grillo; Ma πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 197 KB

In 5-10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent microdeletion types are found in most cases, with microdeletion breakpoints located in paralogous regions flanking NF1 (proximal