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Article

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers.

Human mutation - 1 Jan 1997

Giovannone B, Sabbadini G, Di Maio L, Calabrese O, Castaldo I, Frontali M, Novelleto A, Squitieri F

Abstract excerpt

The length of the CAG repeat responsible for Huntington disease has been analysed by two PCR methods in blood and sperm DNA of 13 expansion carriers, two carriers of intermediate alleles, and four normal subjects. The two methods consistently confirmed size heterogeneity, more pronounced in sperm and confined to the CAG stretch. Based on densitometric scanning of films, four indexes addressed to different...

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PMID: 9401009
DOI: 10.1002/(SICI)1098-1004(1997)10:6<458::AID-HUMU7>3.0.CO;2-9

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