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Science 28 February 1992:
Vol. 255. no. 5048, pp. 1132 - 1134
DOI: 10.1126/science.1546315
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Articles

Science, Vol 255, Issue 5048, 1132-1134
Copyright © 1992 by American Association for the Advancement of Science

articles

A human gene responsible for Zellweger syndrome that affects peroxisome assembly

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

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

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.


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