| FMRP detection assay for the diagnosis of the fragile X syndrome. | |
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MedLine Citation:
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PMID: 11449486 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X syndrome is almost always caused by the absence or deficit of the FMR1 protein (FMRP). Diagnostic methods include polymerase chain reaction and Southern blotting, which are performed on DNA isolated from peripheral leukocytes. Recently, different immunocytochemical tests have been described to identify patients with fragile X syndrome, based on the detection of FMRP in cells by a monoclonal antibody. This review aims to provide an update on the different antibody methods for prenatal and postnatal diagnosis of the fragile X syndrome. |
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Authors:
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R Willemsen; B A Oostra |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics Volume: 97 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2000 |
Date Detail:
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Created Date: 2001-07-13 Completed Date: 2001-10-18 Revised Date: 2005-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: United States |
Other Details:
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Languages: eng Pagination: 183-8 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, Erasmus University, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Fragile X Mental Retardation Protein Fragile X Syndrome / blood, diagnosis*, genetics* Hair / metabolism Humans Mosaicism / genetics Mutation Nerve Tissue Proteins / genetics* Prenatal Diagnosis RNA-Binding Proteins* |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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