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...
Κύριοι συγγραφείς: | Knight, S, Hirst, M, Roche, A, Christodoulou, Z, Huson, S, Winter, R, Fitchett, M, McKinley, M, Lindenbaum, R, Nakahori, Y |
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Μορφή: | Journal article |
Γλώσσα: | English |
Έκδοση: |
1992
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Παρόμοια τεκμήρια
Παρόμοια τεκμήρια
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Genotype prediction in the fragile X syndrome.
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Molecular heterogeneity of the fragile X syndrome.
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Molecular analysis of the fragile X syndrome.
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Origins of the fragile X syndrome mutation.
ανά: Hirst, M, κ.ά.
Έκδοση: (1993) -
Prenatal diagnosis of fragile X syndrome.
ανά: Hirst, M, κ.ά.
Έκδοση: (1991)