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Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
Goldberg YP, MacFarlane J, MacDonald ML, Thompson J, Dube MP, Mattice M, Fraser R, Young C, Hossain S, Pape T, Payne B, Radomski C, Donaldson G, Ives E, Cox J, Younghusband HB, Green R, Duff A, Boltshauser E, Grinspan GA, Dimon JH, Sibley BG, Andria G, Toscano E, Kerdraon J, Bowsher D, Pimstone SN, Samuels ME, Sherrington R, Hayden MR. Goldberg YP, et al. Among authors: andria g. Clin Genet. 2007 Apr;71(4):311-9. doi: 10.1111/j.1399-0004.2007.00790.x. Clin Genet. 2007. PMID: 17470132
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
Indo Y, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I. Indo Y, et al. Among authors: andria g. Hum Mutat. 2001 Oct;18(4):308-18. doi: 10.1002/humu.1192. Hum Mutat. 2001. PMID: 11668614
Cholelithiasis in Down's syndrome.
Toscano E, Trivellini V, Andria G. Toscano E, et al. Among authors: andria g. Arch Dis Child. 2001 Sep;85(3):242-3. doi: 10.1136/adc.85.3.242. Arch Dis Child. 2001. PMID: 11517110 Free PMC article.
251 results