Filters: Format: "application/pdf" School Or College: "School of Medicine" Collection: "ir_uspace" Subject: "Genetics"
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| Creator | Title | Description | Subject | Date | ||
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Gouw, Launce G.; McKenna, Catherine K.; Digre, Kathleen B.; Placek, Louis J. | Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. | The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract that is expanded in SCA7 patients. We have determined expansions in 73 individuals from 17 SCA7 kindreds and compared them with repeat lengths of 180 unaffected individuals. Subjects with abnormal expansions co... | Genetics; Biosynthesis; SCA7 Gene | 1998-03-07 |
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Blumenthal, Donald K. | Effects of deletions in the central helix of calmodulin on enzyme activation and peptide binding. | Using site-directed mutagenesis we have expressed in Escherichia coli three engineered calmodulins (CaM) containing deletions in the solvent-exposed region of the central helix. These are CaM delta 84, Glu-84 removed; CaM delta 83-84, Glu-83 and Glu-84 removed; and CaM delta 81-84, Ser-81 through Gl... | Drug Effects; Genetics; Metabolism | 1989-05-15 |
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Zhang, Kang | Novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy | PURPOSE. To conduct clinical and genetic studies in a European family with autosomal dominant Stargardt-like macular dystrophy (adSTGD-like MD) and to investigate the functional consequences of a novel ELOVL4 mutation | Macular dystrophy; ELOVL4 mutation; Genetics | 2004 |
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