A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis

by Cynthia Cherfane, Pauline Lee, Leana Guerin, Kyle Brown
Published 2013-01-01

Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.

by Catherine Cukras, Terry Gaasterland, Pauline Lee, Harini V Gudiseva, Venkata R M Chavali, Raghu Pullakhandam, Bruno Maranhao, Lee Edsall, Sandra Soares, G Bhanuprakash Reddy, Paul A Sieving, Radha Ayyagari
Published 2012-01-01

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.

by Bruno Maranhao, Pooja Biswas, Alexander D H Gottsch, Mili Navani, Muhammad Asif Naeem, John Suk, Justin Chu, Sheen N Khan, Rachel Poleman, Javed Akram, Sheikh Riazuddin, Pauline Lee, S Amer Riazuddin, J Fielding Hejtmancik, Radha Ayyagari
Published 2015-01-01