Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype.
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
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