Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously M...

por Lin, Benjamin R., Le, Derek J., Chen, Yabin, Wang, Qiwei, Chung, D. Doug, Frausto, Ricardo F., Croasdale, Christopher, Yee, Richard W., Hejtmancik, Fielding J., Aldave, Anthony J.
Publicado 2016

A Spontaneous Missense Mutation in Branched Chain Keto Acid Dehydrogenase Kinase in the Rat Affects Both the Central and Peripheral Nervous Systems

por Zigler, J. Samuel, Hodgkinson, Colin A., Wright, Megan, Klise, Andrew, Sundin, Olof, Broman, Karl W., Hejtmancik, Fielding, Huang, Hao, Patek, Bonnie, Sergeev, Yuri, Hose, Stacey, Brayton, Cory, Xaiodong, Jiao, Vasquez, David, Maragakis, Nicholas, Mori, Susumu, Goldman, David, Hoke, Ahmet, Sinha, Debasish
Publicado 2016