Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease.

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Article

Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease.

Prenatal diagnosis - 1 Mar 1998

Cormand B, Montfort M, Chabás A, Grinberg D, Vilageliu L L

Abstract excerpt

Mutations in the gene encoding beta-glucocerebrosidase are the main cause of Gaucher disease. The identification of some of these mutations in prenatal tests is a good complement to enzymatic assay and allows diagnosis and, in some cases, prognosis of the disease to be made. DNA analysis is parti...

Topics

Abortion, Induced
Alleles
Base Sequence
Chorionic Villi Sampling
DNA
DNA Mutational Analysis
DNA Primers
Female
Fetal Diseases
Gaucher Disease
Genetic Carrier Screening
Genetic Markers
Glucosylceramidase
Humans
Male
Microsatellite Repeats
Mutation
Pedigree

Source

Open in PubMed

Identifiers

PMID: 9556036

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9556036-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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