Published in Hum Genet on October 01, 1990
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Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology (1996) 1.71
Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism. Am J Hum Genet (1989) 1.70
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Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem (1980) 1.69
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Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat Genet (1999) 1.65
Serum complement and familial combined hyperlipidemia. Atherosclerosis (1997) 1.64
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Reamed intramedullary nailing of the femur: 551 cases. J Trauma (1999) 1.63
Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. Genomics (1993) 1.61
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