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Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype
The absence of the fragile X mental retardation protein (FMRP) results in fragile X syndrome. All males with a full mutation in the FMR1 gene and an inactive FMR1 gene are mentally retarded while 60% of the females with a full mutation are affected. Here we describe monozygotic twin sisters who both...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2000
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734662/ https://ncbi.nlm.nih.gov/pubmed/10922388 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.8.603 |
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