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A novel mutation of the SMARCB1 gene in a case of extrarenal malignant rhabdoid tumor

✍ Scribed by Mikiko Koitabashi; Takashi Kanazawa; Kazushi Tamura; Shota Tsukada; Michiko Suzuki; Akihiro Morikawa; Chitose Ogawa; Junko Hirado


Book ID
113513276
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
161 KB
Volume
181
Category
Article
ISSN
0165-4608

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Novel germ-line deletion of SNF5/INI1/SM
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## Abstract We describe a neonate who had a rare tumor combination of a malignant rhabdoid tumor of the kidney (MRTK) and a brain primitive neuroectodermal tumor (PNET). Genetic alterations of the __SNF5/INI1/SMARCB1__ gene were investigated by PCR–single‐strand conformation polymorphism (SSCP), lo