| A human gene responsible for Zellweger syndrome that affects peroxisome assembly. | |
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MedLine Citation:
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PMID: 1546315 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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N Shimozawa; T Tsukamoto; Y Suzuki; T Orii; Y Shirayoshi; T Mori; Y Fujiki |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Science (New York, N.Y.) Volume: 255 ISSN: 0036-8075 ISO Abbreviation: Science Publication Date: 1992 Feb |
Date Detail:
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Created Date: 1992-04-15 Completed Date: 1992-04-15 Revised Date: 2007-03-19 |
Medline Journal Info:
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Nlm Unique ID: 0404511 Medline TA: Science Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 1132-4 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Gifu University School of Medicine, Japan. |
| Data Bank Information | |
Bank Name/Acc. No.:
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GENBANK/M86852 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Sequence Animals Base Sequence Cricetinae DNA Mutational Analysis Genes Genetic Complementation Test Humans Membrane Proteins / genetics* Microbodies / ultrastructure* Molecular Sequence Data Oligodeoxyribonucleotides / chemistry Pedigree Polymerase Chain Reaction Transfection Zellweger Syndrome / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Membrane Proteins; 0/Oligodeoxyribonucleotides; 135847-86-8/peroxisome assembly factor-1 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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