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 whole exome sequencing study of a Korean proband with idiopathic basal ganglia calcification and its daughter.
Medicine
Lee, Byung Dae BD; Kong, Ja Young JY; Kwon, Chae Hwa CH; Park, Je Min JM; Lee, Young Min YM; Moon, Eunsoo E; Jeong, Hee Jeong HJ; Kim, Soo Yeon SY; Lee, Kang Yoon KY; Suh, Hwagyu H
Publication Date: 2018-10
Variant appearance in text: PDGFB: 63+2978T>C; rs5757575