| Fragile X gene stability in Basque Valleys: prevalence of premutation and intermediate alleles. | |
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MedLine Citation:
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PMID: 19728537 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X syndrome is the most common form of inherited mental retardation. The molecular basis is usually the unstable expansion of a CGG repeat in the FMR1 gene. We previously analyzed a sample of two Basque valleys. In the present work we extend the study to another five isolated valleys. The results show that differences in factors implicated in CGG repeat instability--CGG repeat size, XS548/FRAXAC1 haplotypes, and AGG interspersion pattern-are present in the Basque populations analyzed. |
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Authors:
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I Arrieta; M Télez; I Huerta; P Flores; B Criado; J M Ramírez; M Barasoain; A J Gónzalez |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Human biology Volume: 80 ISSN: 0018-7143 ISO Abbreviation: Hum. Biol. Publication Date: 2008 Dec |
Date Detail:
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Created Date: 2009-09-04 Completed Date: 2009-10-08 Revised Date: 2011-04-18 |
Medline Journal Info:
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Nlm Unique ID: 0116717 Medline TA: Hum Biol Country: United States |
Other Details:
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Languages: eng Pagination: 593-600 Citation Subset: IM |
Affiliation:
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Department of Genetics, Faculty of Science and Technology, University of the Basque Country, Bilbao, Spain. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Alleles Chi-Square Distribution DNA-Binding Proteins / genetics European Continental Ancestry Group / genetics Fragile X Mental Retardation Protein / genetics Fragile X Syndrome / epidemiology, ethnology, genetics* Gene Frequency / genetics Genetic Markers / genetics Haplotypes / genetics Humans Male Prevalence Spain / epidemiology Trinucleotide Repeats |
| Chemical | |
Reg. No./Substance:
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0/CGGBP1 protein, human; 0/DNA-Binding Proteins; 0/Genetic Markers; 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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