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GUTHRIE CARDS FOR DETECTION OF POINT MUTATIONS IN PHENYLKETONURIA

✍ Scribed by Lyonnet, S.; Caillaud, C.; Rey, F.; Berthelon, M.; Frezal, J.; Rey, J.; Munnich, A.

Book ID
122376283
Publisher
The Lancet
Year
1988
Tongue
English
Weight
245 KB
Volume
332
Category
Article
ISSN
0140-6736

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## Abstract The aim of this study was to establish the prevalence of __HFE__ gene mutations in the population of the Czech Republic. Altogether, 257 randomly selected newborn screening cards (Guthrie cards) were analyzed for the C282Y and H63D mutations within the __HFE__ gene. Complete results wer