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Transgenic TBK1 mice have features of normal tension glaucoma.
Fingert JH, Miller K, Hedberg-Buenz A, Roos BR, Lewis CJ, Mullins RF, Anderson MG. Fingert JH, et al. Among authors: mullins rf. Hum Mol Genet. 2017 Jan 1;26(1):124-132. doi: 10.1093/hmg/ddw372. Hum Mol Genet. 2017. PMID: 28025332 Free PMC article.
Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head.
Clark AF, Kawase K, English-Wright S, Lane D, Steely HT, Yamamoto T, Kitazawa Y, Kwon YH, Fingert JH, Swiderski RE, Mullins RF, Hageman GS, Alward WL, Sheffield VC, Stone EM. Clark AF, et al. Among authors: mullins rf. FASEB J. 2001 May;15(7):1251-3. doi: 10.1096/fj.00-0663fje. FASEB J. 2001. PMID: 11344104 No abstract available.
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.
Fath MA, Mullins RF, Searby C, Nishimura DY, Wei J, Rahmouni K, Davis RE, Tayeh MK, Andrews M, Yang B, Sigmund CD, Stone EM, Sheffield VC. Fath MA, et al. Among authors: mullins rf. Hum Mol Genet. 2005 May 1;14(9):1109-18. doi: 10.1093/hmg/ddi123. Epub 2005 Mar 16. Hum Mol Genet. 2005. PMID: 15772095
Visual impairment in the absence of dystroglycan.
Satz JS, Philp AR, Nguyen H, Kusano H, Lee J, Turk R, Riker MJ, Hernández J, Weiss RM, Anderson MG, Mullins RF, Moore SA, Stone EM, Campbell KP. Satz JS, et al. Among authors: mullins rf. J Neurosci. 2009 Oct 21;29(42):13136-46. doi: 10.1523/JNEUROSCI.0474-09.2009. J Neurosci. 2009. PMID: 19846701 Free PMC article.
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.
Fingert JH, Robin AL, Stone JL, Roos BR, Davis LK, Scheetz TE, Bennett SR, Wassink TH, Kwon YH, Alward WL, Mullins RF, Sheffield VC, Stone EM. Fingert JH, et al. Among authors: mullins rf. Hum Mol Genet. 2011 Jun 15;20(12):2482-94. doi: 10.1093/hmg/ddr123. Epub 2011 Mar 29. Hum Mol Genet. 2011. PMID: 21447600 Free PMC article.
251 results