| Autor: |
Petek, E., Jenne, D.E., Smolle, J., Binder, B., Lasinger, W., Windpassinger, C., Wagner, K., Kroisel, P.M., Kehrer-Sawatzki, H. |
| Předmět: |
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| Zdroj: |
Journal of Medical Genetics; Jul2003, Vol. 40 Issue 7, p520-525, 6p, 1 Color Photograph, 3 Diagrams, 1 Chart, 1 Graph |
| Abstrakt: |
Examines a mitotic recombination mediated by the JJAFZ 1 gene causing somatic mosaicism and a constitutional neurofibromatosis type 1 (NF1) microdeletion in two children of a mosaic female with few manifestations. Marker and FISH analyses on mosaicism for a large microdeletion of the NF1 gene region in the mother; Breaks in the duplicated segments of the NF1 region; Mitotic intrachromosomal recombination in NF1 microdeletions. |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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