The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case

Spastic paraplegia 30 is a recently established autosomal recessive disease characterized by a complex form of spastic paraplegia associated with neuropathy. Homozygous mutations of KIF1A reportedly lead to hereditary spastic paraplegia or hereditary sensory and autonomic neuropathy type 2 (HSAN2),...

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Detalles Bibliográficos
Autores principales: Yoshikawa, Keisuke, Kuwahara, Motoi, Saigoh, Kazumasa, Ishiura, Hiroyuki, Yamagishi, Yuko, Hamano, Yuta, Samukawa, Makoto, Suzuki, Hidekazu, Hirano, Makito, Mitsui, Yoshiyuki, Tsuji, Shoji, Kusunoki, Susumu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Letters to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297067/
https://www.ncbi.nlm.nih.gov/pubmed/30582020
http://dx.doi.org/10.1016/j.ensci.2018.11.026

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