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Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.
J Med Genet. 2002 Aug;39(8):e47. doi: 10.1136/jmg.39.8.e47.
J Med Genet. 2002.
PMID: 12161614
Free PMC article.
No abstract available.
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
Toomes C, Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob RA, Bennett CP, Vize CJ, Desai SP, Black GC, Patel N, Teimory M, Markham AF, Inglehearn CF, Churchill AJ.
Toomes C, et al. Among authors: marchbank nj.
Hum Mol Genet. 2001 Jun 15;10(13):1369-78. doi: 10.1093/hmg/10.13.1369.
Hum Mol Genet. 2001.
PMID: 11440989
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Importance of molecular testing in dominant optic atrophy.
Patel N, Churchill AJ, Toomes C, Marchbank NJ, Inglehearn CF, Foulds N, Moosavi A, Teimory M.
Patel N, et al. Among authors: marchbank nj.
Br J Ophthalmol. 2002 Nov;86(11):1314-5. doi: 10.1136/bjo.86.11.1314.
Br J Ophthalmol. 2002.
PMID: 12386098
Free PMC article.
No abstract available.
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Polymorphisms in OPA1 are associated with normal tension glaucoma.
Powell BL, Toomes C, Scott S, Yeung A, Marchbank NJ, Spry PG, Lumb R, Inglehearn CF, Churchill AJ.
Powell BL, et al. Among authors: marchbank nj.
Mol Vis. 2003 Sep 22;9:460-4.
Mol Vis. 2003.
PMID: 14551537
Free article.
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