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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: roses ad. 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.
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: roses ad. 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.
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.
Li YJ, Oliveira SA, Xu P, Martin ER, Stenger JE, Scherzer CR, Hauser MA, Scott WK, Small GW, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Jankovic J, Goetz CG, Mastaglia F, Middleton LT, Roses AD, Saunders AM, Schmechel DE, Gullans SR, Haines JL, Gilbert JR, Vance JM, Pericak-Vance MA, Hulette C, Welsh-Bohmer KA. Li YJ, et al. Among authors: roses ad. Hum Mol Genet. 2003 Dec 15;12(24):3259-67. doi: 10.1093/hmg/ddg357. Epub 2003 Oct 21. Hum Mol Genet. 2003. PMID: 14570706
462 results