Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.

The gene predisposing to neurofibromatosis type 2 (NF2) on human chromosome 22 has revealed a wide variety of different mutations in NF2 individuals. These patients display a marked variability in clinical presentation, ranging from very severe disease with numerous tumors at a young age to a relati...

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Bibliografische gegevens
Hoofdauteurs: Ruttledge, M. H., Andermann, A. A., Phelan, C. M., Claudio, J. O., Han, F. Y., Chretien, N., Rangaratnam, S., MacCollin, M., Short, P., Parry, D., Michels, V., Riccardi, V. M., Weksberg, R., Kitamura, K., Bradburn, J. M., Hall, B. D., Propping, P., Rouleau, G. A.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1996
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914741/
https://ncbi.nlm.nih.gov/pubmed/8755919
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