Title |
The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective
|
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Published in |
Frontiers in Genetics, July 2014
|
DOI | 10.3389/fgene.2014.00244 |
Pubmed ID | |
Authors |
Gary J. Latham, Justine Coppinger, Andrew G. Hadd, Sarah L. Nolin |
Abstract |
In 1994, it was suggested that AGG interruptions affect the stability of the fragile X triplet repeat. Until recently, however, this hypothesis was not explored on a large scale due primarily to the technical difficulty of determining AGG interruption patterns of the two alleles in females. The recent development of a PCR technology that overcomes this difficulty and accurately identifies the number and position of AGGs has led to several studies that examine their influence on repeat stability. Here, we present a historical perspective of relevant studies published during the last 20 years on AGG interruptions and examine those recent publications that have refined risk estimates for repeat instability and full-mutation expansions. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 50% |
Switzerland | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 65 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 12 | 18% |
Student > Ph. D. Student | 11 | 17% |
Student > Bachelor | 10 | 15% |
Student > Master | 9 | 14% |
Other | 4 | 6% |
Other | 8 | 12% |
Unknown | 11 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 24 | 37% |
Agricultural and Biological Sciences | 10 | 15% |
Medicine and Dentistry | 7 | 11% |
Engineering | 3 | 5% |
Nursing and Health Professions | 1 | 2% |
Other | 8 | 12% |
Unknown | 12 | 18% |