Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation
2013 ◽
Vol 56
(3)
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pp. 159-162
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2014 ◽
Vol 164
(10)
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pp. 2627-2632
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2020 ◽
pp. 19-21
2002 ◽
Vol 71
(1)
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pp. 168-173
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2011 ◽
Vol 47
(3)
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pp. 354-357
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