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...
Главные авторы: | Knight, S, Hirst, M, Roche, A, Christodoulou, Z, Huson, S, Winter, R, Fitchett, M, McKinley, M, Lindenbaum, R, Nakahori, Y |
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Формат: | Journal article |
Язык: | English |
Опубликовано: |
1992
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