Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy

Fuchs corneal dystrophy (FCD) is a genetic disorder of the corneal endothelium and is the most common cause of corneal transplantation in the United States. Previously, we mapped a late-onset FCD locus, FCD2, on chromosome 18q. Here, we present next-generation sequencing of all coding exons in the F...

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Autori principali: Riazuddin, S. Amer, Parker, David S., McGlumphy, Elyse J., Oh, Edwin C., Iliff, Benjamin W., Schmedt, Thore, Jurkunas, Ula, Schleif, Robert, Katsanis, Nicholas, Gottsch, John D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3309196/
https://ncbi.nlm.nih.gov/pubmed/22341973
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.01.013
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