Molecular studies of the fragile X syndrome.
We have studied families segregating for the fragile X syndrome for the presence of amplification of the CGG repeat sequence adjacent to the HpaII Tiny Fragment (HTF) island in the FMR-1 gene. We demonstrate that 138/143 fragile X positive, mentally retarded males show a characteristic smear of frag...
| 主要な著者: | , , , , , , , , , |
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| フォーマット: | Journal article |
| 言語: | English |
| 出版事項: |
1992
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