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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| 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 |