Neophytou P, Constantinides R, Lazarou A, Pierides A, Constantinou Deltas C
Novel mutation and polymorphism in the PKD1 gene of a polycystic kidney disease family
33rd Congress of the Eur Dial Transplant Assoc
Nephrol Dial Transplant (Jun) 11:A62 1996

Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85- 90% of PKD disease in the Caucasian population. The authors identified a new mutation in a large Cypriot family. This new mutation (a nucleotide substitution at position 12258 of the cDNa that substitutes Cysteine 4086 by a premature termination codon in the 3'-end portion of the PKD gene) was associated with early onset of symptoms (large cysts and hypertension) (Carmine Zoccali, M.D., Reggio Calabria, Italy).

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33rd Congress of the Eur Dial Transplant Assoc
Cystic disease : Hereditary polycystic disease

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