Molecular analysis of the fragile X syndrome.
Carriers of the fragile X mutation possess more than the normal number of copies of a trinucleotide repeat (CGG) within the coding region of a gene designated as FMR-1 in Xq27. The clinical phenotype is determined by the number of copies of the CGG repeat. DNA-based methods for the detection of the...
| Главные авторы: | , , |
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| Формат: | Journal article |
| Язык: | English |
| Опубликовано: |
1992
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| _version_ | 1826257618332549120 |
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| author | Knight, S Hirst, M Davies, K |
| author_facet | Knight, S Hirst, M Davies, K |
| author_sort | Knight, S |
| collection | OXFORD |
| description | Carriers of the fragile X mutation possess more than the normal number of copies of a trinucleotide repeat (CGG) within the coding region of a gene designated as FMR-1 in Xq27. The clinical phenotype is determined by the number of copies of the CGG repeat. DNA-based methods for the detection of the fragile X mutation are now available which greatly assist in the genetic diagnosis of this disorder. Direct detection of the mutation enables the identification of fragile X negative normal transmitting males and fragile X negative carrier females. |
| first_indexed | 2024-03-06T18:21:01Z |
| format | Journal article |
| id | oxford-uuid:064bd9fb-8fc2-491a-bbec-8109d1ea6890 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T18:21:01Z |
| publishDate | 1992 |
| record_format | dspace |
| spelling | oxford-uuid:064bd9fb-8fc2-491a-bbec-8109d1ea68902022-03-26T09:01:47ZMolecular analysis of the fragile X syndrome.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:064bd9fb-8fc2-491a-bbec-8109d1ea6890EnglishSymplectic Elements at Oxford1992Knight, SHirst, MDavies, KCarriers of the fragile X mutation possess more than the normal number of copies of a trinucleotide repeat (CGG) within the coding region of a gene designated as FMR-1 in Xq27. The clinical phenotype is determined by the number of copies of the CGG repeat. DNA-based methods for the detection of the fragile X mutation are now available which greatly assist in the genetic diagnosis of this disorder. Direct detection of the mutation enables the identification of fragile X negative normal transmitting males and fragile X negative carrier females. |
| spellingShingle | Knight, S Hirst, M Davies, K Molecular analysis of the fragile X syndrome. |
| title | Molecular analysis of the fragile X syndrome. |
| title_full | Molecular analysis of the fragile X syndrome. |
| title_fullStr | Molecular analysis of the fragile X syndrome. |
| title_full_unstemmed | Molecular analysis of the fragile X syndrome. |
| title_short | Molecular analysis of the fragile X syndrome. |
| title_sort | molecular analysis of the fragile x syndrome |
| work_keys_str_mv | AT knights molecularanalysisofthefragilexsyndrome AT hirstm molecularanalysisofthefragilexsyndrome AT daviesk molecularanalysisofthefragilexsyndrome |