Novel variations in the PLOD1, COL1A1, COL5A2 and COL4A1 genes related to keratoconus

PurposeTo investigate the genetic characteristics of four Chinese families affected by keratoconus (KC).MethodsIn the four families affected by KC, medical records, clinical observations, and blood samples were collected from all individuals. One hundred subjects without KC served as healthy control...

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Principais autores:	Qinghong Lin, Xuejun Wang, Xiaoliao Peng, Tian Han, Ling Sun, Xiaoyu Zhang, Xingtao Zhou
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2025-03-01
Serija:	Frontiers in Genetics
Teme:	keratoconus procollagen-lysine 2-oxoglutarate 5-dioxygenase 1 (PLOD1) collagen type V alpha 2 collagen type I alpha 1 collagen type IV alpha 1
Online dostop:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1497915/full
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