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Article

First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family.

Prenatal diagnosis - 1 Jun 1996

Orimo H, Nakajima E, Hayashi Z, Kijima K, Watanabe A, Tenjin H, Araki T, Shimada T

Abstract excerpt

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 the proband DNA using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) and...

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PMID: 8809899
DOI: 10.1002/(SICI)1097-0223(199606)16:6<559::AID-PD897>3.0.CO;2-A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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