硫酸软骨素尿症中的基因异质性。
Genetic heterogeneity within the chondroitinsulphaturias.
作者信息
Danes B S, Rottell B K, Eviatar L, Stolzenberg J
出版信息
J Med Genet. 1977 Apr;14(2):103-7. doi: 10.1136/jmg.14.2.103.
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.
摘要
用于对I-VI型遗传性黏多糖贮积症进行分类的方法，即先确定临床表型，然后在细胞培养中进行溶酶体酶分析，已应用于硫酸软骨素尿症。在最初报告的9例患者中有异质性的证据。
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