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Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.
The fragile X mental retardation syndrome is caused by unstable expansion of a CGG repeat. Two main types of mutation have been categorised. Clinical expression is associated with the presence of the full mutation, while subjects who carry only a premutation do not have mental retardation. Premutati...
Tallennettuna:
| Julkaisussa: | J Med Genet |
|---|---|
| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMJ Publishing Group
1992
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016175/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1453430/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.11.794 |
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