Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenoty...
Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype
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United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Contents
Fragile X syndrome (FXS) is caused by loss of function mutations in the FMR1 gene. Trinucleotide CGG-repeat expansions, resulting in FMR1 gene silencing, are the most common mutations observed at this locus. Even though the repeat expansion mutation is a functional null mutation, few conventional mutations have been identified at this locus, largel...
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Full title
Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype
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TN_cdi_plos_journals_1289429026
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1289429026
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0009476
