Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari i malformation

Daniel Duran, Sheng Chih Jin, Tyrone Despenza, Carol Nelson-Williams, Andrea G. Cogal, Elizabeth W. Abrash, Peter C. Harris, John C. Lieske, Serena J.E. Shimshak, Shrikant Mane, Kaya Bilguvar, Michael L. Diluna, Murat Günel, Richard P. Lifton, Kristopher T. Kahle

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Fingerprint

Dive into the research topics of 'Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari i malformation'. Together they form a unique fingerprint.

Keyphrases

Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology