Article
Prenatal diagnosis of hereditary amyloidosis in a Portuguese family living in France.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1993
Lucotte G, Berriche S, David F, Rouquet H, Turpin J C
Abstract excerpt
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.
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