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Mutational analysis and clinical correlation in Leber congenital amaurosis.
Dharmaraj SR, Silva ER, Pina AL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, Maumenee IH. Dharmaraj SR, et al. Among authors: yang jm. Ophthalmic Genet. 2000 Sep;21(3):135-50. Ophthalmic Genet. 2000. PMID: 11035546
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.
Sundin OH, Leppert GS, Silva ED, Yang JM, Dharmaraj S, Maumenee IH, Santos LC, Parsa CF, Traboulsi EI, Broman KW, Dibernardo C, Sunness JS, Toy J, Weinberg EM. Sundin OH, et al. Among authors: yang jm. Proc Natl Acad Sci U S A. 2005 Jul 5;102(27):9553-8. doi: 10.1073/pnas.0501451102. Epub 2005 Jun 23. Proc Natl Acad Sci U S A. 2005. PMID: 15976030 Free PMC article.
1,785 results