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Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function

Year: 2008

Type: article

Study design: Observational Study

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.32201

Authors: Jayne S. Weiss, Howard S. Kruth, Helena Kuivaniemi, Gerard Tromp, Jayaprakash Karkera, Sunil Mahurkar, Walter Lisch, William J Dupps, Peter S. White, R. Scott Winters, Chaesik Kim, Christopher J. Rapuano, John Sutphin, Jim Reidy, Fung‐Rong Hu, Da Wen Lu, Neil Ebenezer, Michael L. Nickerson

Institutions: Wayne State University, Kresge Eye Institute, National Institutes of Health, Transgenomic (United States), Klinikum Hanau, Cleveland Clinic, Cleveland Clinic Research, Children's Hospital of Philadelphia, Wills Eye Hospital, University of Kansas Medical Center, University at Buffalo, State University of New York, National Taiwan University, National Taiwan University Hospital, Tri-Service General Hospital, University College London

Language: English

Topic: Corneal surgery and disorders

Subfield: Radiology, Nuclear Medicine and Imaging

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Research to Prevent Blindness, Eye Bank Association of America, Oogfonds, National Eye Institute

Awards: G3122217347, THE GENE FOR SCHNYDER'S CRYSTALLINE CORNEAL DYSTROPHY

OpenAlex ID: W2018621238

FWCI: 3.838

Cites: 41

Cited by: 47

Related to: 10