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Case Reports
. 1977 Apr;14(2):103-7.
doi: 10.1136/jmg.14.2.103.

Genetic heterogeneity within the chondroitinsulphaturias

B S Danes, B K Rottell, L Eviatar, J Stolzenberg
Case Reports

Genetic heterogeneity within the chondroitinsulphaturias

B S Danes et al. J Med Genet. 1977 Apr.

Abstract

The approach, identification of clinical phenotype followed by lysosomal enzyme assays in cell culture, used in the classification of the genetic mucopolysaccharidoses I-VI has been applied to the chondroitinsulphaturias. There was evidence of heterogeneity in the first 9 patients reported.

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References

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