TERMIUM Plus®

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PAIRED DOMAIN [1 record]

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Record 1 1999-02-11

English

Subject field(s)
  • Genetics
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.

French

Domaine(s)
  • Génétique
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.

Spanish

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