High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene

Detailed analyses of 20 patients with sporadic neurofibromatosis type 1 (NF1) microdeletions revealed an unexpected high frequency of somatic mosaicism (8/20 [40%]). This proportion of mosaic deletions is much higher than previously anticipated. Of these deletions, 16 were identified by a screen of...

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Autores principales: Kehrer-Sawatzki, H., Kluwe, L., Sandig, C., Kohn, M., Wimmer, K., Krammer, U., Peyrl, A., Jenne, D. E., Hansmann, I., Mautner, V.-F.
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2004
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182020/
https://ncbi.nlm.nih.gov/pubmed/15257518
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