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Article

Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.

Human molecular genetics - 1 Mar 1998

Gouw L G, Castañeda M A, McKenna C K, Digre K B, Pulst S M, Perlman S, Lee M S, Gomez C, Fischbeck K, Gagnon D, Storey E, Bird T, Jeri F R, Ptácek L J

Abstract excerpt

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 comprise 59 clinically affected individuals and 14 at-risk currently unaffected individuals predicted to carry the...

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PMID: 9467013
DOI: 10.1093/hmg/7.3.525

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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