Syndrome de Lesch-Nyhan

作者: A. M. Hagemeijer , P. Dodinval , J. M. Andrien

DOI: 10.1007/BF00295739

关键词: BiologyMolecular biology

摘要: L'existence de deux populations cellulaires, l'une HGPRT+ et l'autre HGPRT- a pu etre demontree en cultures fibroblastes partir biopsies cutanees chez la soeur, mere une soeur d'un patient atteint du syndrome Lesch-Nyhan. Ce but est aisement realisant selection biochimique des cellules mutantes par 8-azaguanine avant l'autoradiographie incubees avec l'3H-hypoxanthine; parallelement les normales sont isolees dans le milieu HAT.

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