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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 |
| 2 |
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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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