Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report

INTRODUCTION: The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal recessive spastic paraplegia-47(SPG47). CASE PRESENTATION: Here we present...

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Detalles Bibliográficos
Autores principales: Ruan, Wen-Cong, Wang, Jia, Yu, Yong-Lin, Che, Yue-Ping, Ding, Li, Li, Chen-Xi, Wang, Xiao-Dong, Li, Hai-Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7071676/
https://www.ncbi.nlm.nih.gov/pubmed/32171285
http://dx.doi.org/10.1186/s12881-020-0988-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7071676/
https://www.ncbi.nlm.nih.gov/pubmed/32171285
http://dx.doi.org/10.1186/s12881-020-0988-3

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