| First Author | Shimozawa N | Year | 1992 |
| Journal | Science | Volume | 255 |
| Issue | 5048 | Pages | 1132-4 |
| PubMed ID | 1546315 | Mgi Jnum | J:47868 |
| Mgi Id | MGI:1267236 | Doi | 10.1126/science.1546315 |
| Citation | Shimozawa N, et al. (1992) A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science 255(5048):1132-4 |
| abstractText | 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. |
