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2001 | 1 |
2002 | 2 |
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Page 1
Polymorphisms in OPA1 are associated with normal tension glaucoma.
Mol Vis. 2003 Sep 22;9:460-4.
Mol Vis. 2003.
PMID: 14551537
Free article.
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
Item in Clipboard
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.
Marchbank NJ, Craig JE, Leek JP, Toohey M, Churchill AJ, Markham AF, Mackey DA, Toomes C, Inglehearn CF.
Marchbank NJ, et al.
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.
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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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