Mutations in a novel serine protease PRSS56 in families with nanophthalmos

PURPOSE: Nanophthalmos is a rare genetic ocular disorder in which the eyes of affected individuals are abnormally small. Patients suffer from severe hyperopia as a result of their markedly reduced axial lengths, but otherwise are capable of seeing well unlike other more general forms of microphthalm...

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Main Authors: Orr, Andrew, Dubé, Marie-Pierre, Zenteno, Juan C., Jiang, Haiyan, Asselin, Geraldine, Evans, Susan C., Caqueret, Aurore, Lakosha, Hesham, Letourneau, Louis, Marcadier, Julien, Matsuoka, Makoto, Macgillivray, Christine, Nightingale, Mathew, Papillon-Cavanagh, Simon, Perry, Scott, Provost, Sylvie, Ludman, Mark, Guernsey, Duane L., Samuels, Mark E.
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3137557/
https://ncbi.nlm.nih.gov/pubmed/21850159
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