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

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 of neuron...

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Detalles Bibliográficos
Autores principales: Yang, Juan, Ding, Xiaoting, Meng, Shasha, Cai, Jinhua, Zhou, Weihui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580076/
https://www.ncbi.nlm.nih.gov/pubmed/34331747
http://dx.doi.org/10.1002/mgg3.1777