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PRENATAL DIAGNOSIS OF HYPOPHOSPHATASIA

โœ Scribed by Hoar, DavidI; Rudd, NoreenL


Book ID
123006884
Publisher
The Lancet
Year
1976
Tongue
English
Weight
165 KB
Volume
307
Category
Article
ISSN
0140-6736

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We obtained a prenatal molecular diagnosis during the first trimester in a Japanese woman whose first child (the proband) had been a compound heterozygote for infantile hypophosphatasia. We examined chorionic villus DNA samples obtained at 10 weeks of gestation for the base substitutions detected in