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Mutational analysis and clinical correlation in Leber congenital amaurosis.
Ophthalmic Genet. 2000 Sep;21(3):135-50.
Ophthalmic Genet. 2000.
PMID: 11035546
A strabismus susceptibility locus on chromosome 7p.
Parikh V, Shugart YY, Doheny KF, Zhang J, Li L, Williams J, Hayden D, Craig B, Capo H, Chamblee D, Chen C, Collins M, Dankner S, Fiergang D, Guyton D, Hunter D, Hutcheon M, Keys M, Morrison N, Munoz M, Parks M, Plotsky D, Protzko E, Repka MX, Sarubbi M, Schnall B, Siatkowski RM, Traboulsi E, Waeltermann J, Nathans J.
Parikh V, et al.
Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12283-8. doi: 10.1073/pnas.2035118100. Epub 2003 Sep 30.
Proc Natl Acad Sci U S A. 2003.
PMID: 14519848
Free PMC article.
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Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.
Marmorstein LY, Munier FL, Arsenijevic Y, Schorderet DF, McLaughlin PJ, Chung D, Traboulsi E, Marmorstein AD.
Marmorstein LY, et al.
Proc Natl Acad Sci U S A. 2002 Oct 1;99(20):13067-72. doi: 10.1073/pnas.202491599. Epub 2002 Sep 19.
Proc Natl Acad Sci U S A. 2002.
PMID: 12242346
Free PMC article.
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