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Tibetan PHD2, an allele with loss-of-function properties.
Song D, Navalsky BE, Guan W, Ingersoll C, Wang T, Loro E, Eeles L, Matchett KB, Percy MJ, Walsby-Tickle J, McCullagh JSO, Medina RJ, Khurana TS, Bigham AW, Lappin TR, Lee FS. Song D, et al. Among authors: percy mj. Proc Natl Acad Sci U S A. 2020 Jun 2;117(22):12230-12238. doi: 10.1073/pnas.1920546117. Epub 2020 May 15. Proc Natl Acad Sci U S A. 2020. PMID: 32414920 Free PMC article.
Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology.
Smith TG, Brooks JT, Balanos GM, Lappin TR, Layton DM, Leedham DL, Liu C, Maxwell PH, McMullin MF, McNamara CJ, Percy MJ, Pugh CW, Ratcliffe PJ, Talbot NP, Treacy M, Robbins PA. Smith TG, et al. Among authors: percy mj. PLoS Med. 2006 Jul;3(7):e290. doi: 10.1371/journal.pmed.0030290. PLoS Med. 2006. PMID: 16768548 Free PMC article.
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
Percy MJ, Beer PA, Campbell G, Dekker AW, Green AR, Oscier D, Rainey MG, van Wijk R, Wood M, Lappin TR, McMullin MF, Lee FS. Percy MJ, et al. Blood. 2008 Jun 1;111(11):5400-2. doi: 10.1182/blood-2008-02-137703. Epub 2008 Mar 31. Blood. 2008. PMID: 18378852 Free PMC article.
82 results