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Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma

Glaucoma is a highly heritable disease that is a leading cause of blindness worldwide. Here, we identified heterozygous thrombospondin 1 (THBS1) missense alleles altering p.Arg1034, a highly evolutionarily conserved amino acid, in 3 unrelated and ethnically diverse families affected by congenital gl...

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Detalles Bibliográficos
Autores principales:	Fu, Haojie, Siggs, Owen M., Knight, Lachlan S.W., Staffieri, Sandra E., Ruddle, Jonathan B., Birsner, Amy E., Collantes, Edward Ryan, Craig, Jamie E., Wiggs, Janey L., D’Amato, Robert J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Clinical Investigation 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9711877/ https://www.ncbi.nlm.nih.gov/pubmed/36453543 http://dx.doi.org/10.1172/JCI156967

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