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A de novo frame-shift mutation in the tuberin gene.
Kumar A, Wolpert C, Kandt RS, Segal J, Pufky J, Roses AD, Pericak-Vance MA, Gilbert JR. Kumar A, et al. Among authors: kandt rs. Hum Mol Genet. 1995 Aug;4(8):1471-2. doi: 10.1093/hmg/4.8.1471. Hum Mol Genet. 1995. PMID: 7581393 No abstract available.
Tuberous sclerosis: the next step.
Kandt RS. Kandt RS. J Child Neurol. 1993 Apr;8(2):107-10; discussion 110-1. doi: 10.1177/088307389300800201. J Child Neurol. 1993. PMID: 8505472 Review. No abstract available.
A novel splice site mutation (156 + 1G-->A) in the TSC2 gene.
Kumar A, Kandt RS, Wolpert C, Roses AD, Pericak-Vance MA, Gilbert JR. Kumar A, et al. Among authors: kandt rs. Hum Mutat. 1997;9(1):64-5. doi: 10.1002/(SICI)1098-1004(1997)9:1<64::AID-HUMU12>3.0.CO;2-N. Hum Mutat. 1997. PMID: 8990012 No abstract available.
35 results