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    Science. 1992 Feb 28;255(5048):1132-4.

    A human gene responsible for Zellweger syndrome that affects peroxisome assembly.

    Shimozawa N, Tsukamoto T, Suzuki Y, Orii T, Shirayoshi Y, Mori T, Fujiki Y.

    Source

    Department of Pediatrics, Gifu University School of Medicine, Japan.

    Abstract

    The primary defect arising from Zellweger syndrome appears to be linked to impaired assembly of peroxisomes. A human complementary DNA has been cloned that complements the disease's symptoms (including defective peroxisome assembly) in fibroblasts from a patient with Zellweger syndrome. The cause of the syndrome in this patient was a point mutation that resulted in the premature termination of peroxisome assembly factor-1. The homozygous patient apparently inherited the mutation from her parents, each of whom was heterozygous for that mutation.

    PMID:
    1546315
    [PubMed - indexed for MEDLINE]

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