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Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Göring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andréasson S, Swaroop A. Friedman JS, et al. Among authors: johnson k. Am J Hum Genet. 2009 Jun;84(6):792-800. doi: 10.1016/j.ajhg.2009.05.007. Am J Hum Genet. 2009. PMID: 19520207 Free PMC article.
Editorial: Functional kinesiology in health and performance.
Nobari H, Figueiredo AJ, Johnson K, Mainer-Pardos E. Nobari H, et al. Among authors: johnson k. Front Sports Act Living. 2024 May 22;6:1428145. doi: 10.3389/fspor.2024.1428145. eCollection 2024. Front Sports Act Living. 2024. PMID: 38840954 Free PMC article. No abstract available.
Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.
McFarland KN, Tiwari A, Hashem V, Zhang L, Zeng D, Vincent J, Arredondo MJ, Johnson KL, Gan SR, Yabe I, Skov L, Rasmussen A, Ashizawa T. McFarland KN, et al. Among authors: johnson kl. Hum Mol Genet. 2024 Jun 4:ddae092. doi: 10.1093/hmg/ddae092. Online ahead of print. Hum Mol Genet. 2024. PMID: 38832639
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