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Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkäemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL, Engle EC. Yamada K, et al. Among authors: johnson rh. Nat Genet. 2003 Dec;35(4):318-21. doi: 10.1038/ng1261. Epub 2003 Nov 2. Nat Genet. 2003. PMID: 14595441
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.
Engle EC, McIntosh N, Yamada K, Lee BA, Johnson R, O'Keefe M, Letson R, London A, Ballard E, Ruttum M, Matsumoto N, Saito N, Collins ML, Morris L, Del Monte M, Magli A, de Berardinis T. Engle EC, et al. BMC Genet. 2002;3:3. doi: 10.1186/1471-2156-3-3. Epub 2002 Mar 6. BMC Genet. 2002. PMID: 11882252 Free PMC article.
PCR detection of a COL1A1 RsaI RFLP.
Rose J, Mackay K, Johnson R, Dalgleish R. Rose J, et al. Nucleic Acids Res. 1991 Jun 11;19(11):3163. doi: 10.1093/nar/19.11.3163. Nucleic Acids Res. 1991. PMID: 1676156 Free PMC article. No abstract available.
Breakthrough Curve Separation Using Applied Solute Tracers.
Paradis CJ, Sultana R, Dangelmayr MA, Johnson RH, Kent RD. Paradis CJ, et al. Among authors: johnson rh. Ground Water. 2025 Mar 18. doi: 10.1111/gwat.13480. Online ahead of print. Ground Water. 2025. PMID: 40099386
569 results