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Genetic heterogeneity within the chondroitinsulphaturias.

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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Bibliografske podrobnosti
Main Authors: Danes, B S, Rottell, B K, Eviatar, L, Stolzenberg, J
Format: Artigo
Jezik:Inglês
Izdano: 1977
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1013523/
https://ncbi.nlm.nih.gov/pubmed/404409
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