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Detection of a germline mutation and somatic homozygous loss of the von Hippel-Lindau tumor-suppressor gene in a family with a de novo mutation. A combined genetic study, including cytogenetics, PCR/SSCP, FISH, and CGH.
Decker HJ, Neuhaus C, Jauch A, Speicher M, Ried T, Bujard M, Brauch H, Störkel S, Stöckle M, Seliger B, Huber C. Decker HJ, et al. Among authors: bujard m. Hum Genet. 1996 Jun;97(6):770-6. doi: 10.1007/BF02346188. Hum Genet. 1996. PMID: 8641695
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