Article
Prenatal diagnosis of a rhodopsin mutation using chemical cleavage of the mismatch.
Prenatal diagnosis - 1 May 2002
Tessitore Alessandra, Toniato Elena, Gulino Alberto, Frati Luigi, Ricevuto Enrico, Vadalà Maria, Vingolo Enzo, Martinotti Stefano
Abstract excerpt
OBJECTIVE: Mutations of the rhodopsin gene are responsible for autosomal dominant or recessive retinitis pigmentosa (RP). The present study reports the first prenatal diagnosis performed on chorionic villi biopsy of a pregnant woman affected by a severe form of autosomal dominant transmitted RP, due to the Arg135Trp substitution. METHODS: The rhodopsin gene was analysed by automated direct sequencing and, for the...
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