Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration

PLA2G6-associated neurodegeneration (PLAN) is a rare autosomal recessive disorder caused by PLA2G6 mutations. This study aimed to investigate the clinical characteristics and mutation spectrum of PLAN and to investigate the founder effects in Chinese PLAN patients. Six Chinese PLAN families were cli...

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Detalles Bibliográficos
Autores principales: Cheng, Hao-Ling, Chen, Yi-Jun, Xue, Yan-Yan, Wu, Zhi-Ying, Li, Hong-Fu, Wang, Ning
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9138368/
https://www.ncbi.nlm.nih.gov/pubmed/35624904
http://dx.doi.org/10.3390/brainsci12050517

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9138368/
https://www.ncbi.nlm.nih.gov/pubmed/35624904
http://dx.doi.org/10.3390/brainsci12050517

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