Associated Papers
Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia.
Matsuda Y et al.
Neurology. Genetics, 2020
Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity.
Tsuchida S et al.
Molecular Genetics and Metabolism Reports, 2015
Mild case of D-bifunctional protein deficiency associated with novel gene mutations.
Mizumoto H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2012
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