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ENFERMEDAD GENETICA EXPANSION TRIPLETES [1 record]
Record 1 - internal organization data 2011-07-04
Record 1, English
Record 1, Subject field(s)
- Genetics
Record 1, Main entry term, English
- triplet expansion genetic disease
1, record 1, English, triplet%20expansion%20genetic%20disease
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record 1, French
Record 1, Domaine(s)
- Génétique
Record 1, Main entry term, French
- maladie génétique à expansion de triplets
1, record 1, French, maladie%20g%C3%A9n%C3%A9tique%20%C3%A0%20expansion%20de%20triplets
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Les graves maladies génétiques à expansion de triplets sont dues à une expansion de microsatellites particuliers, le plus souvent des polymères de CAG ou de CGG, ou d'autres triplets de base. On connaît maintenant onze maladies causées par l'expansion de ces microsatellites. Ce sont des maladies dégénératives du système nerveux. 1, record 1, French, - maladie%20g%C3%A9n%C3%A9tique%20%C3%A0%20expansion%20de%20triplets
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Genética
Record 1, Main entry term, Spanish
- enfermedad genética por expansión de tripletes
1, record 1, Spanish, enfermedad%20gen%C3%A9tica%20por%20expansi%C3%B3n%20de%20tripletes
correct, feminine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 OBS
Son varias las afecciones neurológicas, neurodegenerativas y neuromusculares causadas por expansión de tripletes. [...] Estas expansiones de tripletes de ADN se caracterizan por ser dinámicas entre los tejidos y a través de las generaciones. El patrón de herencia y la inestabilidad en el tejido son determinados por los elementos cis y trans-actuantes presentes en ese momento. Aunque cada enfermedad en particular es causada por una mutación en un locus diferente, varias características son comunes en este grupo de trastornos. 2, record 1, Spanish, - enfermedad%20gen%C3%A9tica%20por%20expansi%C3%B3n%20de%20tripletes
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