Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1986.tb01896.x/fullpdf
Reference21 articles.
1. The defect in Hunter syndrome: deficiency of sulphoiduronate sulphatase;Bach;Proc. Natl. Acad. Sci.,1973
2. Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis;Besley;Clin. Genet.,1984
3. Diagnosis of the mucopolysaccharidoses using cultured skin fibroblasts and amniotic fluid cells;Butterworth;J. Inherited Metab. Dis.,1978
4. Comparison of the substrate 4-methylumbelliferyl-α-L-iduronide with phenyl-α-L-iduronide for the diagnosis of Hurler's disease in cultured cells;Butterworth;J. Inherited Metab. Dis.,1979
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