Search Results - "Rodriguez, Estanislado"

Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16 by Au, Kit-Sing, Rodriguez, Joseph A., Rodriguez Jr, Estanislado, Dobyns, William B., Delgado, Mauricio R., Northrup, Hope

“…Tuberous sclerosis complex (TSC) is an autosomal dominant disorder of benign tumor formation, hamartomata, and hamartias. TSC has been shown to be genetically…”
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Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients by Au, Kit-Sing, Rodriguez, Joseph A., Finch, Jennifer L., Volcik, Kelly A., Roach, E. Steve, Delgado, Mauricio R., Rodriguez, Estanislado, Northrup, Hope

“…Ninety patients with tuberous-sclerosis complex (TSC) were tested for subtle mutations in the TSC2 gene, by means of single-strand conformational analysis…”
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Evidence for genetic heterogeneity in tuberous sclerosis : one locus on chromosome 9 and at least one locus elsewhere by NORTHRUP, H, KWIATKOWSKI, D. J, ROACH, E. S, DOBYNS, W. B, LEWIS, R. A, HERMAN, G. E, RODRIGUEZ, E. JR, DAIGER, S. P, BLANTON, S. H

“…Linkage of tuberous sclerosis complex (TSC), an autosomal dominant disorder, to markers on chromosome 9 was reported first in 1987. This assignment was…”
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