✦ LIBER ✦

PRENATAL DIAGNOSIS OF HYPOPHOSPHATASIA

✍ Scribed by Blau, Karl; Hoar, DavidI; Rattenbury, J.M; Rudd, NoreenL

Book ID: 122523328
Publisher: The Lancet
Year: 1977
Tongue: English
Weight: 140 KB
Volume: 310
Category: Article
ISSN: 0140-6736
DOI: 10.1016/S0140-6736(77)90596-7

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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