Article

GUCY2D Gene Loss-of-Function Mutations Responsible for Leber Congenital Amaurosis 1

2019-10-07

Abstract excerpt

<title>Abstract</title> <p>Background: Leber congenital amaurosis (LCA) is a group of severe congenital neurodegenerative diseases. Variants in the guanylate cyclase 2D gene ( GUCY2D ), which encodes guanylate cyclase 1 (ROS-GC1), are associated with LCA1 and account for 6%–21% of all LCA cases. <h4>Methods:</h4> In this study, one family with LCA1 was recruited from China. A combination of next generation sequen...

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Literature Corpus work: f33a6e6d-0bbe-554a-b2fb-0d72d86a63ce
DOI: 10.21203/rs.2.11649/v2

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