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A novel mutation in ATP13A2 gene in a patient with complicated hereditary spastic paraplegia accompanied by tubulopathy.
Berin Inan
Filiz Azman
Dilek Aktas
Yilmaz Yildiz
Serap Saygi
Published in:
Acta neurologica Belgica (2022)
Keyphrases
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case report
cerebral palsy
copy number
genome wide
genome wide identification
gene expression