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MISSENSE MUTATION [2 records]
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
Record 2 - internal organization data 1999-02-11
Record 2, English
Record 2, Subject field(s)
- Genetics
Record 2, Main entry term, English
- paired domain
1, record 2, English, paired%20domain
correct
Record 2, Abbreviations, English
- PD 2, record 2, English, PD
correct
Record 2, Synonyms, English
Record 2, Textual support, English
Record number: 2, Textual support number: 1 CONT
In a family of three affected individuals with this syndrome, a mother and two children, a missense mutation(Asn47Lys) in the paired domain of PAX3 was initially detected by SSCP analysis. PCR amplification using an oligonucleotide with a terminal 3’-residue match for the C-to-G transversion in codon 47 showed the presence of this mutation in the DNA from all affected members. 3, record 2, English, - paired%20domain
Record 2, French
Record 2, Domaine(s)
- Génétique
Record 2, Main entry term, French
- domaine paired
1, record 2, French, domaine%20paired
masculine noun
Record 2, Abbreviations, French
- PD 2, record 2, French, PD
correct, masculine noun
Record 2, Synonyms, French
Record 2, Textual support, French
Record number: 2, Textual support number: 1 CONT
Fonction des gènes Pax : synergie de liaison à l'ADN entre le domaine paired et l'homéodomaine. Les gènes du développement Pax, codant pour des régulateurs de transcription, sont caractérisés par la présence d'un domaine paired (PD) capable de se lier à l'ADN. 1, record 2, French, - domaine%20paired
Record 2, Spanish
Record 2, Textual support, Spanish
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