Genetic heterogeneity within the chondroitinsulphaturias
- PMID: 404409
- PMCID: PMC1013523
- DOI: 10.1136/jmg.14.2.103
Genetic heterogeneity within the chondroitinsulphaturias
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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