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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...

詳細記述

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書誌詳細
主要な著者: Clarke, J T, Wilson, P J, Morris, C P, Hopwood, J J, Richards, R I, Sutherland, G R, Ray, P N
フォーマット: Artigo
言語:Inglês
出版事項: 1992
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682679/
https://ncbi.nlm.nih.gov/pubmed/1642233
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