Yamashita, Toru

Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype. [electronic resource] - Journal of the neurological sciences Apr 2017 - 424-429 p. digital

Publication Type: Journal Article

1878-5883

10.1016/j.jns.2017.02.058 doi


Adult
Cerebellar Ataxia--complications
DNA Mutational Analysis
Family Health
Female
Humans
Magnetic Resonance Imaging
Male
Mutation--genetics
Peroxins
Peroxisomal Disorders--complications
Phenotype
Receptors, Cytoplasmic and Nuclear--genetics