Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia.
Bmc Medical Genomics
De Castro-Orós, Isabel I; Pérez-López, Javier J; Mateo-Gallego, Rocio R; Rebollar, Soraya S; Ledesma, Marta M; León, Montserrat M; Cofán, Montserrat M; Casasnovas, Jose A JA; Ros, Emilio E; Rodríguez-Rey, Jose C JC; Civeira, Fernando F; Pocoví, Miguel M