infantile Refsum disease

Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders
Nobuyuki Shimozawa, Atsushi Imamura, Zhongyi Zhang, Yasuyuki Suzuki, Tadao Orii, Toshiro Tsukamoto, Takashi Osumi, Yukio Fujiki, Ronald J A Wanders, Guy Besley, Naomi Kondo

Journal of Medical Genetics Oct 1999, 36 (10) 779-781; DOI: 10.1136/jmg.36.10.779

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infantile Refsum disease