The use of fructose 1-phosphate to detect Hunter heterozygotes in fibroblast cultures from high-risk carriers


Fibroblast cultures from 49 possible Hunter disease carriers were collected. These cultures were analysed for the incorporation of 35S-sulphate into acid mucopolysaccharides in the presence and the absence of fructose 1-phosphate. For 10 of these women more than one abnormal result was observed, when two or three cultures from each individual were tested… (More)
DOI: 10.1007/BF00286603

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