Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

We report the results of studies on the characterization of the mutation associated with marked unbalanced expression of the mutant X chromosome in a karyotypically normal girl with Hunter disease (mucopolysaccharidosis type II). Southern analysis of DNA extracted from somatic cell hybrids containin...

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Autori principali: Clarke, J T, Wilson, P J, Morris, C P, Hopwood, J J, Richards, R I, Sutherland, G R, Ray, P N
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1992
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682679/
https://ncbi.nlm.nih.gov/pubmed/1642233
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