Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

Neurofibromatosis type 1 is one of the most common inherited disorders with an incidence of 1 in 3000. The search for NF1 mutations has been hampered by the overall size of the gene, the large number of exons, and the high mutation rate. To date, fewer than 90 mutations have been reported to the NF1...

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Bibliographic Details
Main Authors: Upadhyaya, M, Maynard, J, Osborn, M, Huson, S M, Ponder, M, Ponder, B A, Harper, P S
Format: Artigo
Language:Inglês
Published: 1995
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051671/
https://ncbi.nlm.nih.gov/pubmed/8544190
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