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PREDICTION OF SEVERITY OF GAUCHER'S DISEASE BY IDENTIFICATION OF MUTATIONS AT DNA LEVEL

✍ Scribed by Zimran, A.; Gross, E.; West, C.; Sorge, J.; Kubitz, M.; Beutler, E.

Book ID
122878467
Publisher
The Lancet
Year
1989
Tongue
English
Weight
588 KB
Volume
334
Category
Article
ISSN
0140-6736

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To detect mutations in the glucocerebrosidase gene in Gaucher disease patients, we used the recently described technique of single-strand conformation polymorphism (SSCP) analysis in combination with selective amplification. We analyzed exon 8, 9, 10 and 11 of the glucocerebrosidase gene; these exon