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Keywords: P.I91T
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Journal Articles
Carmela Zizzo, Alessandra Testa, Paolo Colomba, Maurizio Postorino, Giuseppe Natale, Alessandro Pini, Daniele Francofonte, Giuseppe Cammarata, Simone Scalia, Serafina Sciarrino, Carmine Zoccali, Giovanni Duro
Journal:
Kidney and Blood Pressure Research
Kidney Blood Press Res (2018) 43 (4): 1344–1351.
Published Online: 10 August 2018
...: Among ESRD patients qualified for enrollment into this study, a previously undiagnosed young man harboring the mutation p.I91T was identified. The study of the proband's family led to the identification of 8 additional cases. In another ESRD male patient, we identified the functional polymorphism...
