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Genetics | | English term or phrase: full mutation mosaics | | muchas gracias!! |
| Gabriel RKudoZ activityQuestions: 262 ( 2 open) ( 1 closed without grading) Answers: 0
| Local time: 00:54
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| | Spanish translation:mosaicos de mutación completa | Explanation:
Véase:
http://www.ops.org.bo/textocompleto/rnsbp97360110sup.pdf
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Note added at 7 mins (2012-01-07 13:31:11 GMT)
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Significa que algunos sujetos tienen una población de células no mutadas y otra población de células con la mutación completa. Los sujetos con dicho mosaico serán contabilizados como sujetos con mutación completa a efectos del estudio. |
| Selected response from:
 Alistair Ian Spearing Ortiz
Local time: 05:54
| Grading comment gracias!!
4 KudoZ points were awarded for this answer |
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| Discussion entries: 0 |
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Automatic update in 00:
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5 mins confidence:   peer agreement (net): +1 mosaicos de mutación completa
Explanation:
Véase:
http://www.ops.org.bo/textocompleto/rnsbp97360110sup.pdf
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Note added at 7 mins (2012-01-07 13:31:11 GMT)
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Significa que algunos sujetos tienen una población de células no mutadas y otra población de células con la mutación completa. Los sujetos con dicho mosaico serán contabilizados como sujetos con mutación completa a efectos del estudio.
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| Changes made by editors |
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| Mar 5 - Changes made by M. C. Filgueira: | | Field (specific) | Chemistry; Chem Sci/Eng => Genetics | | Jan 27 - Changes made by Yana Dovgopol: | | Term Context | The “mGluR theory” of FX mental retardation suggests that an interaction between exaggerated mGlu receptor function and FMR1 function may account for the cognitive impairment and other clinical symptoms associated with FXS. Accordingly, all males, with the full mutation and a resulting absence of FMRP, show clinical manifestation of FXS. Premutation carriers have a partially reduced FMRP expression and are generally unaffected intellectually and behaviorally. Therefore, in order to evaluate the effects of RO4917523 in a population with the potential to have maximal benefit from a reduction in mGlu5 signaling, only full mutation carriers will be enrolled in this study. Full mutation mosaics will be considered full mutations for the purposes of this study. Patient eligibility will be confirmed at screening using direct DNA-based testing. This DNA analysis determines the size of the fragile X CGG repeat and is considered diagnostic with very high sensitivity and specificity. In addition to the genetic confirmation of diagnosis, confirmation of need for treatment will be assessed by investigator using a threshold for behavioral and overall symptoms at screening. This will also ensure a level of impairment to theoretically allow detection of efficacy.
muchas gracias!! => muchas gracias!! |
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