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Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy

1 Feb 1998

Abstract excerpt

We studied X inactivation patterns in manifesting carriers of familial and sporadic Duchenne muscular dystrophy (DMD) or unaffected carriers of DMD by analysis of the methylation of HpaII sites in the first exon of the human androgen-receptor gene (HUMARA) from peripheral blood samples. Three of the four manifesting carriers, four of the five asymptomatic carriers, and 31 of the 32 female controls were...

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PMID: 9611069
DOI: 10.1111/j.1399-0004.1998.tb02655.x

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