title: Prenatal diagnosis of hereditary amyloidosis in a Portuguese family living in France.
abstract: Portuguese type amyloidosis is an autosomal dominant condition caused by a mutation in the transthyretin gene. This mutation can be detected directly by the presence of a restriction site for NsiI. We report here our first prenatal diagnosis for this condition performed by chorionic villus sampling, polymerase chain reaction, and restriction enzyme digestion.
authors.affiliation: Centre Régional de Neurogénétique, CHU de Reims, France.
authors.forename: G
authors.initials: G
authors.lastname: Lucotte
authors.forename: S
authors.initials: S
authors.lastname: Berriche
authors.forename: F
authors.initials: F
authors.lastname: David
authors.forename: H
authors.initials: H
authors.lastname: Rouquet
authors.forename: J C
authors.initials: JC
authors.lastname: Turpin
mesh_terms: D017772:Amyloid Neuropathies / Q000175:diagnosis / Q000235:genetics*; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005602:France; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D011174:Portugal / Q000208:ethnology; D011228:Prealbumin / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D011228:Prealbumin