[Study of a case of Juvenile neuronal ceroid lipofuscinosis due to compound heterozygous variants of PPT1 gene].
The c.272(exon3)A>C and c.176(exon2)A>G compound heterozygous variants of the PPT1 gene probably underlay the Juvenile NCL in this child. Discovery of the c.176(exon2)A>G variant has expanded the mutational spectrum of this disease.
Authors
- Yanming Xu
- Fang Xu (ORCID: https://orcid.org/0000-0001-8201-1595)
- Dan Zhang (ORCID: https://orcid.org/0000-0003-1728-9069)
- Yīmíng Bào (ORCID: https://orcid.org/0000-0002-9922-9723)
Institutions
- Sichuan University (CN)
- West China Hospital of Sichuan University (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-12-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20240927-00510
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00