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MISSENSE MUTATION [1 record]
Record 1 - internal organization data 2012-09-17
Record 1, English
Record 1, Subject field(s)
- Genetics
Record 1, Main entry term, English
- missense mutation
1, record 1, English, missense%20mutation
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
A missense mutation in the extracellular loop of exon 2 (1550 GA, Val125Ile) was found in only one proband. This mutation was also examined in additional 34 unrelated patients with panic disorder and 112 controls. The prevalence rate of this mutation was 8.8% in patients with panic disorder (3/34) and 4.4% in controls (5/112). The mutation did not segregate with panic disorder in two families where this could be tested. These results suggest no pathophysiological significance of this mutation in panic disorder. 2, record 1, English, - missense%20mutation
Record 1, French
Record 1, Domaine(s)
- Génétique
Record 1, Main entry term, French
- mutation faux-sens
1, record 1, French, mutation%20faux%2Dsens
correct, feminine noun, standardized
Record 1, Abbreviations, French
Record 1, Synonyms, French
- mutation faux sens 2, record 1, French, mutation%20faux%20sens
correct, feminine noun
- mutation contresens 3, record 1, French, mutation%20contresens
correct, feminine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Mutation qui échange un codon spécifiant un acide aminé contre un codon qui en spécifie un autre. [Définition normalisée par l'AFNOR et reproduite avec son autorisation.] 4, record 1, French, - mutation%20faux%2Dsens
Record number: 1, Textual support number: 1 OBS
mutation faux-sens : terme normalisé par l'AFNOR. 5, record 1, French, - mutation%20faux%2Dsens
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Genética
Record 1, Main entry term, Spanish
- mutación de cambio de sentido
1, record 1, Spanish, mutaci%C3%B3n%20de%20cambio%20de%20sentido
correct, feminine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
- mutación errónea 2, record 1, Spanish, mutaci%C3%B3n%20err%C3%B3nea
correct, feminine noun
- mutación de falso sentido 2, record 1, Spanish, mutaci%C3%B3n%20de%20falso%20sentido
correct, feminine noun
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 DEF
Mutación que sustituye un codón que especifica un aminoácido por un codón que especifica otro. 1, record 1, Spanish, - mutaci%C3%B3n%20de%20cambio%20de%20sentido
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