1 results match your criteria: "Italy. Telethon Institute of Genetics and Medicine (TIGEM)[Affiliation]"
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.
Br J Ophthalmol
September 2003
Department of Ophthalmology, Seconda Università di Napoli, Naples, Italy. Telethon Institute of Genetics and Medicine (TIGEM), Italy.
Aims: To describe the clinical phenotype of X linked juvenile retinoschisis in eight Italian families with six different mutations in the XLRS1 gene.
Methods: Complete ophthalmic examinations, electroretinography and A and B-scan standardised echography were performed in 18 affected males. The coding sequences of the XLRS1 gene were amplified by polymerase chain reaction and directly sequenced on an automated sequencer.