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The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?

Profound iduronate sulfatase deficiency, characteristic of the Hunter syndrome, has been found in cultured fibroblasts, serum, lymphocytes, and tissues of two clinically affected girls. The patients are karyotypically normal and have normal fathers; cloning of the mothers' fibroblasts did not r...

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Autores principales: Neufeld, E F, Liebaers, I, Epstein, C J, Yatziv, S, Milunsky, A, Migeon, B R
Formato: Artigo
Lenguaje:Inglês
Publicado: 1977
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685419/
https://ncbi.nlm.nih.gov/pubmed/409284
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