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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主要な著者:	Haojie Fu, Owen M. Siggs, Lachlan S.W. Knight, Sandra E. Staffieri, Jonathan B. Ruddle, Amy E. Birsner, Edward Ryan Collantes, Jamie E. Craig, Janey L. Wiggs, Robert J. D’Amato
フォーマット:	Artigo
言語:	Inglês
出版事項:	American Society for Clinical Investigation 2022-12-01
シリーズ:	The Journal of Clinical Investigation
主題:	Ophthalmology
オンライン･アクセス:	https://doi.org/10.1172/JCI156967
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