Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review

BACKGROUND: Hereditary spastic paraplegias (HSP) are of great clinical and genetic heterogeneity. According to the clinical features, HSP can be divided into pure or complicated subtypes which combined with other neurological symptoms including cerebellar ataxia. Up to date, 78 loci or genes have be...

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Detalles Bibliográficos
Autores principales: Peng, Fang, Sun, Yi-Min, Quan, Chao, Wang, Jian, Wu, Jian-Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482496/
https://www.ncbi.nlm.nih.gov/pubmed/31023339
http://dx.doi.org/10.1186/s13023-019-1053-1

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