The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease

Abstract Background Cathepsin D is a lysosomal aspartic protease encoded by the CTSD gene. It plays important roles in many biological processes. Biallelic loss‐of‐function mutation of CTSD is considered a cause of CLN10 disease. CLN10 is a rare autosomal recessive disorder that is one of 14 types o...

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Autores principales: Juan Yang, Xiaoting Ding, Shasha Meng, Jinhua Cai, Weihui Zhou
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
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Acceso en línea:https://doaj.org/article/89de8393ad3a4c568adce2a5b74a8c43
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